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I GOT MY GENETICS BACK FROM YASKO!!! RICH, PLEASE HELP ME.

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Posted

I just wanted to let everyone I got my genetics back from the

lab!!!! I sent in my test on 5/15/06 and I just received it today.

I am going to post the results here in hopes someone can help me

more to interpet.

So here goes

Gene Name Variation Result Call

ACE Del 16 +/+ Deletion

CBS A360A +/+ T

CBS Y233Y (C699T) -/- C

COMT H62H +/- Hetero

COMT V158M +/- Hetero

COMT L136L +/- Hetero

MAO A R297R +/- Hetero

MTHFR A222V (C677T) -/- C

MTHFR E429A (A1298C) +/- Hetero

MTR A919G (A2756G) -/- A

MTRR H595Y -/- C

MTRR S175L -/- C

MTRR K350A -/- A

MTRR 415T -/- C

MTRR 919G (A66G) +/- Hetero

NOS D298E -/- G

SUOX S370S +/- Hetero

VDR BSM/TAG +/- Hetero

VDR Fok +/- Hetero

VDR Taq +/- Hetero

Whoops, forgot one,

MTRR S257T -/- T

Please let me know what you think,

As always, thank you all for your help,

Janet

in San Diego

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Hi Janet,

Great that you got your test results back. Now you can hopefully zero

in on what is going on. Looks very complicated!

Michele G

-- In , " alwaysacutie2u "

<jgstev716@...> wrote:

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Janet,

Here is some info from Dr. Amy - hopefully this will be helpful. I think you

will greatly benefit form vitamin D, K, & Ora Pancreas with your VDR

mutations.

Marisha.

Mom to

Lake, 5 years old, Recovered

Continuing to support his mutations.

NULL GSTM1, GSTP1+-, SOD2+-

ACE-Del, MAO A R297R++, NOS D298E+-

AHCY L135T++R38W++

CBS A360A+-C699T+-

COMT H62H+-V158M+-

MTHFR F435F++A1298C+-

MTRR S175L+-K350A+-A66G+-

SUOX L300L++S370S++

VDR Taq++Bsm/Taq++Fok+-

There are two pathways that will take you around the methylation cycle from

homocysteine to methionine. The first is the " long way " around the cycle via

the MTR and MTRR enzymes that require B12 and the forward reaction of the

MTHFR (where the C677T impairs the activity) for function. The other is a

" short cut " through the middle of the cycle that bypasses MTR, MTRR and

MTHFR via the BHMT enzyme. If you think of this portion of the cycle as a

clock, the BHMT enzyme can use phosphatidyl serine, phosphatidyl choline and

TMG as substrates to go directly from homocysteine at 6:00 to methionine at

12:00 skipping 7:00 through 11:00. The use of phosphatidyl choline,

phosphatidyl serine and TMG therefore help to bypass these mutations. This

backdoor reaction (or short cut) generates more norepinephrine relative to

dopamine. The BHMT enzyme is also triggered by stress. Imbalances in

dopamine relative to norepinephrine have been implicated in ADD and ADHD

behaviors.

1) Address CBS/ammonia imbalances using the ammonia support program. This is

an important first step so that added methylation cycle support does not

lead to increased levels of ammonia, hydrogen sulfide and other toxic sulfur

byproducts. If there are no CBS up regulations you can skip this step.

2) Wait at least one month after (1) before looking to add the rest of

methylation cycle support as indicated by the nutrigenomic profile. During

this time period you can look at integrating the use of the comprehensive

gut/bacterial support program while the CBS/ammonia issues get in better

balance.

3) Support the rest of the methylation cycle imbalances using support for

both pathways around the methylation cycle. You are looking to support the

" long way " around the cycle via the MTR/MTRR as well as the " short cut "

through the cycle via the BHMT enzyme.

4) Creatinine levels will increase as a function of proper methylation cycle

function as well as by virtue of the decreased ammonia levels as CBS up

regulations are addressed. Increased creatinine will cause detoxification

reactions.

5) Increased beta alanine, anserine, carnosine may be seen as the " short

cut " around the methylation cycle is supported as and ammonia levels drop.

6) Once the levels of beta alanine, anserine, carnosine drop you can

consider the addition of DMG. This will emphasize the long route around the

cycle rather than the short cut. Before adding DMG, first verify that the

long route around the cycle is in balance by checking methionine and taurine

levels on a urine AA test, and FIGLU and methylmalonic acid on an OAT/ MAT

test.

7) Add in metals RNA program if needed.

VDR Fok:

This VDR polymorphism is not related to dopamine levels. It is important in

terms of blood sugar regulation - pancreatic support are useful for

individuals who have a VDR Fok+ status.

VDR Bsm/Taq:

While this particular VDR polymorphism does not affect COMT activity

directly it does affect overall dopamine levels. Since COMT breaks down

dopamine, looking at the level of dopamine breakdown in conjunction with

other genes that also affect dopamine levels will give you an overall sense

of the dopamine levels in the system based on nutrigenomics.

VDR Bsm/Taq - - is the norm and represents the higher level of dopamine. VDR

Bsm/Taq 4- + represents changes in both copies of the genes such that the

dopamine levels are reduced.

COMT and VDR Bsm/Taq:

Individuals who are COMTV158M + +

COMT H62H + +

COMTL136L--

VDR Bsm/Taq - -

wound tend to have the highest overall dopamine levels but also be the most

susceptible to mood swings due to dopamine highs and low. This is because

high dopamine levels can feedback and inhibit dopamine synthesis. Those who

break down dopamine more slowly will tend to accumulate higher levels of

dopamine. This is compounded by the presence of VCD Bsm/Taq - - status. The

high level dopamine inhibits new synthesis such that the dopamine levels can

fall until it reaches a point where the inhibition is relieved and new

synthesis occurs.

CBS:

Both the CBS C699T as well as the CBS A360A lead to increased activity of

the CBS enzyme. The C699T is the stronger of the two up regulations. Overall

there are four possible CBS up regulations that have been characterized at

this time.

MTRR:

The methionine synthase reductase helps to recycle B12 for use by the MTR.

The A66G mutation appears to impair the acitivty of the enzyme.

MaoA:

This is the enzyme that breaks down serotonin. Individuals who are maoA +

break down serotonin more slowly, but may also be subject to mood swings due

to serotonin cycling from high to low levels. I have observed that

aggressive behaviors may in part be associated with maoA + + status.

ACE:

The designation of ACE + + is the same as saying that an individual is

positive for having deletions in both copies of the ACE gene. This can cause

increases in aldosterone levels. Aldosterone is also increased by stress.

The ACE deletions in combination with the maoA+ status may also play a role

in low frustration thresholds and increased anxiety.

SUOX:

The SUOX enzyme helps to detoxify sulfites that are generated due to

activity of the CBS gene. When we have increased CBS activity (CBS C699T+ or

C1080T+) then it can put an additional strain on the SUOX enzyme. Changes in

the SUOX S370S SNP appear to affect the function of this enzyme. Remember

that the + or - status is in relative term that reflects a comparison to a

database " norm " . In the case of SUOX, I find that a - denotes situations

where we are having a potential issue with this SNP. In virtually all cases

we are finding a + + status for the two SUOX markers. In rare cases I have

seen a single - for one of the two SUOX SNPs and this single - for SUOX

S370S appears to indicate a problem with SUOX function.

Individuals who are

CBS C699T+ (or CBS C1080T+) SUOX S370S -

will have greater difficulties with the use of sulfur donors. The presence

of CBS up regulations can serve to allow added methylation cycle support to

flow at a high level into the transsulfuration pathway causing increased

levels of sulfur byproducts and ammonia. The sulfites need to be detoxified

by the SUOX enzyme with the help of molybdenum. The SUOX - status indicates

that the ability to detoxify all of these sulfur (groups that are generated

by the CBS+ +) may be compromised. For those individuals with a CBS+ status

and the SUOX -status it will be really important to limit the ammonia and

sulfur in their system. You will also need to keep a very close eye on

molybdenum and magnesium levels as both of these essential minerals are

involved in either ammonia or sulfur detoxification. sulfur detoxification.

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THere is no particular brand. I use the same stuff orally that I put in the

bathtub. Read the side panel of the package under USE:

BY the way, the stuff tastes just awful. Some put it in juice to mask the

flavor. Others encapsulate it.

mjh

" The Basil Book "

_http://foxhillfarm.us/FireBasil/_ (http://foxhillfarm.us/FireBasil/)

Taking Epsom salts orally???? Is their a brand out there for that??? Help???

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HI Marisha,

I really did feel so much better with ViT D. Much better. I will get the Ora

Pancreas, but the Vit K worries me a little. I have had one blood clot in my leg

early on in my twenties and suspect my blood is pretty thick (hycoagulation.)

What do you think about Vit K??

Thank you so much for your help,

Janet

Marisha <marishataylor@...> wrote:

Janet,

Here is some info from Dr. Amy - hopefully this will be helpful. I think you

will greatly benefit form vitamin D, K, & Ora Pancreas with your VDR

mutations.

Marisha.

Mom to

Lake, 5 years old, Recovered

Continuing to support his mutations.

NULL GSTM1, GSTP1+-, SOD2+-

ACE-Del, MAO A R297R++, NOS D298E+-

AHCY L135T++R38W++

CBS A360A+-C699T+-

COMT H62H+-V158M+-

MTHFR F435F++A1298C+-

MTRR S175L+-K350A+-A66G+-

SUOX L300L++S370S++

VDR Taq++Bsm/Taq++Fok+-

There are two pathways that will take you around the methylation cycle from

homocysteine to methionine. The first is the " long way " around the cycle via

the MTR and MTRR enzymes that require B12 and the forward reaction of the

MTHFR (where the C677T impairs the activity) for function. The other is a

" short cut " through the middle of the cycle that bypasses MTR, MTRR and

MTHFR via the BHMT enzyme. If you think of this portion of the cycle as a

clock, the BHMT enzyme can use phosphatidyl serine, phosphatidyl choline and

TMG as substrates to go directly from homocysteine at 6:00 to methionine at

12:00 skipping 7:00 through 11:00. The use of phosphatidyl choline,

phosphatidyl serine and TMG therefore help to bypass these mutations. This

backdoor reaction (or short cut) generates more norepinephrine relative to

dopamine. The BHMT enzyme is also triggered by stress. Imbalances in

dopamine relative to norepinephrine have been implicated in ADD and ADHD

behaviors.

1) Address CBS/ammonia imbalances using the ammonia support program. This is

an important first step so that added methylation cycle support does not

lead to increased levels of ammonia, hydrogen sulfide and other toxic sulfur

byproducts. If there are no CBS up regulations you can skip this step.

2) Wait at least one month after (1) before looking to add the rest of

methylation cycle support as indicated by the nutrigenomic profile. During

this time period you can look at integrating the use of the comprehensive

gut/bacterial support program while the CBS/ammonia issues get in better

balance.

3) Support the rest of the methylation cycle imbalances using support for

both pathways around the methylation cycle. You are looking to support the

" long way " around the cycle via the MTR/MTRR as well as the " short cut "

through the cycle via the BHMT enzyme.

4) Creatinine levels will increase as a function of proper methylation cycle

function as well as by virtue of the decreased ammonia levels as CBS up

regulations are addressed. Increased creatinine will cause detoxification

reactions.

5) Increased beta alanine, anserine, carnosine may be seen as the " short

cut " around the methylation cycle is supported as and ammonia levels drop.

6) Once the levels of beta alanine, anserine, carnosine drop you can

consider the addition of DMG. This will emphasize the long route around the

cycle rather than the short cut. Before adding DMG, first verify that the

long route around the cycle is in balance by checking methionine and taurine

levels on a urine AA test, and FIGLU and methylmalonic acid on an OAT/ MAT

test.

7) Add in metals RNA program if needed.

VDR Fok:

This VDR polymorphism is not related to dopamine levels. It is important in

terms of blood sugar regulation - pancreatic support are useful for

individuals who have a VDR Fok+ status.

VDR Bsm/Taq:

While this particular VDR polymorphism does not affect COMT activity

directly it does affect overall dopamine levels. Since COMT breaks down

dopamine, looking at the level of dopamine breakdown in conjunction with

other genes that also affect dopamine levels will give you an overall sense

of the dopamine levels in the system based on nutrigenomics.

VDR Bsm/Taq - - is the norm and represents the higher level of dopamine. VDR

Bsm/Taq 4- + represents changes in both copies of the genes such that the

dopamine levels are reduced.

COMT and VDR Bsm/Taq:

Individuals who are COMTV158M + +

COMT H62H + +

COMTL136L--

VDR Bsm/Taq - -

wound tend to have the highest overall dopamine levels but also be the most

susceptible to mood swings due to dopamine highs and low. This is because

high dopamine levels can feedback and inhibit dopamine synthesis. Those who

break down dopamine more slowly will tend to accumulate higher levels of

dopamine. This is compounded by the presence of VCD Bsm/Taq - - status. The

high level dopamine inhibits new synthesis such that the dopamine levels can

fall until it reaches a point where the inhibition is relieved and new

synthesis occurs.

CBS:

Both the CBS C699T as well as the CBS A360A lead to increased activity of

the CBS enzyme. The C699T is the stronger of the two up regulations. Overall

there are four possible CBS up regulations that have been characterized at

this time.

MTRR:

The methionine synthase reductase helps to recycle B12 for use by the MTR.

The A66G mutation appears to impair the acitivty of the enzyme.

MaoA:

This is the enzyme that breaks down serotonin. Individuals who are maoA +

break down serotonin more slowly, but may also be subject to mood swings due

to serotonin cycling from high to low levels. I have observed that

aggressive behaviors may in part be associated with maoA + + status.

ACE:

The designation of ACE + + is the same as saying that an individual is

positive for having deletions in both copies of the ACE gene. This can cause

increases in aldosterone levels. Aldosterone is also increased by stress.

The ACE deletions in combination with the maoA+ status may also play a role

in low frustration thresholds and increased anxiety.

SUOX:

The SUOX enzyme helps to detoxify sulfites that are generated due to

activity of the CBS gene. When we have increased CBS activity (CBS C699T+ or

C1080T+) then it can put an additional strain on the SUOX enzyme. Changes in

the SUOX S370S SNP appear to affect the function of this enzyme. Remember

that the + or - status is in relative term that reflects a comparison to a

database " norm " . In the case of SUOX, I find that a - denotes situations

where we are having a potential issue with this SNP. In virtually all cases

we are finding a + + status for the two SUOX markers. In rare cases I have

seen a single - for one of the two SUOX SNPs and this single - for SUOX

S370S appears to indicate a problem with SUOX function.

Individuals who are

CBS C699T+ (or CBS C1080T+) SUOX S370S -

will have greater difficulties with the use of sulfur donors. The presence

of CBS up regulations can serve to allow added methylation cycle support to

flow at a high level into the transsulfuration pathway causing increased

levels of sulfur byproducts and ammonia. The sulfites need to be detoxified

by the SUOX enzyme with the help of molybdenum. The SUOX - status indicates

that the ability to detoxify all of these sulfur (groups that are generated

by the CBS+ +) may be compromised. For those individuals with a CBS+ status

and the SUOX -status it will be really important to limit the ammonia and

sulfur in their system. You will also need to keep a very close eye on

molybdenum and magnesium levels as both of these essential minerals are

involved in either ammonia or sulfur detoxification. sulfur detoxification.

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Hi Janet,

Vit K is a very simple blood test. I had it added on to another one I was

getting, it came up super low and I've been supplementing K for a while now.

Janet s <jgstev716@...> wrote:

HI Marisha,

I really did feel so much better with ViT D. Much better. I will get the Ora

Pancreas, but the Vit K worries me a little. I have had one blood clot in my leg

early on in my twenties and suspect my blood is pretty thick (hycoagulation.)

What do you think about Vit K??

Thank you so much for your help,

Janet

Marisha <marishataylor@...> wrote:

Janet,

Here is some info from Dr. Amy - hopefully this will be helpful. I think you

will greatly benefit form vitamin D, K, & Ora Pancreas with your VDR

mutations.

Marisha.

Mom to

Lake, 5 years old, Recovered

Continuing to support his mutations.

NULL GSTM1, GSTP1+-, SOD2+-

ACE-Del, MAO A R297R++, NOS D298E+-

AHCY L135T++R38W++

CBS A360A+-C699T+-

COMT H62H+-V158M+-

MTHFR F435F++A1298C+-

MTRR S175L+-K350A+-A66G+-

SUOX L300L++S370S++

VDR Taq++Bsm/Taq++Fok+-

There are two pathways that will take you around the methylation cycle from

homocysteine to methionine. The first is the " long way " around the cycle via

the MTR and MTRR enzymes that require B12 and the forward reaction of the

MTHFR (where the C677T impairs the activity) for function. The other is a

" short cut " through the middle of the cycle that bypasses MTR, MTRR and

MTHFR via the BHMT enzyme. If you think of this portion of the cycle as a

clock, the BHMT enzyme can use phosphatidyl serine, phosphatidyl choline and

TMG as substrates to go directly from homocysteine at 6:00 to methionine at

12:00 skipping 7:00 through 11:00. The use of phosphatidyl choline,

phosphatidyl serine and TMG therefore help to bypass these mutations. This

backdoor reaction (or short cut) generates more norepinephrine relative to

dopamine. The BHMT enzyme is also triggered by stress. Imbalances in

dopamine relative to norepinephrine have been implicated in ADD and ADHD

behaviors.

1) Address CBS/ammonia imbalances using the ammonia support program. This is

an important first step so that added methylation cycle support does not

lead to increased levels of ammonia, hydrogen sulfide and other toxic sulfur

byproducts. If there are no CBS up regulations you can skip this step.

2) Wait at least one month after (1) before looking to add the rest of

methylation cycle support as indicated by the nutrigenomic profile. During

this time period you can look at integrating the use of the comprehensive

gut/bacterial support program while the CBS/ammonia issues get in better

balance.

3) Support the rest of the methylation cycle imbalances using support for

both pathways around the methylation cycle. You are looking to support the

" long way " around the cycle via the MTR/MTRR as well as the " short cut "

through the cycle via the BHMT enzyme.

4) Creatinine levels will increase as a function of proper methylation cycle

function as well as by virtue of the decreased ammonia levels as CBS up

regulations are addressed. Increased creatinine will cause detoxification

reactions.

5) Increased beta alanine, anserine, carnosine may be seen as the " short

cut " around the methylation cycle is supported as and ammonia levels drop.

6) Once the levels of beta alanine, anserine, carnosine drop you can

consider the addition of DMG. This will emphasize the long route around the

cycle rather than the short cut. Before adding DMG, first verify that the

long route around the cycle is in balance by checking methionine and taurine

levels on a urine AA test, and FIGLU and methylmalonic acid on an OAT/ MAT

test.

7) Add in metals RNA program if needed.

VDR Fok:

This VDR polymorphism is not related to dopamine levels. It is important in

terms of blood sugar regulation - pancreatic support are useful for

individuals who have a VDR Fok+ status.

VDR Bsm/Taq:

While this particular VDR polymorphism does not affect COMT activity

directly it does affect overall dopamine levels. Since COMT breaks down

dopamine, looking at the level of dopamine breakdown in conjunction with

other genes that also affect dopamine levels will give you an overall sense

of the dopamine levels in the system based on nutrigenomics.

VDR Bsm/Taq - - is the norm and represents the higher level of dopamine. VDR

Bsm/Taq 4- + represents changes in both copies of the genes such that the

dopamine levels are reduced.

COMT and VDR Bsm/Taq:

Individuals who are COMTV158M + +

COMT H62H + +

COMTL136L--

VDR Bsm/Taq - -

wound tend to have the highest overall dopamine levels but also be the most

susceptible to mood swings due to dopamine highs and low. This is because

high dopamine levels can feedback and inhibit dopamine synthesis. Those who

break down dopamine more slowly will tend to accumulate higher levels of

dopamine. This is compounded by the presence of VCD Bsm/Taq - - status. The

high level dopamine inhibits new synthesis such that the dopamine levels can

fall until it reaches a point where the inhibition is relieved and new

synthesis occurs.

CBS:

Both the CBS C699T as well as the CBS A360A lead to increased activity of

the CBS enzyme. The C699T is the stronger of the two up regulations. Overall

there are four possible CBS up regulations that have been characterized at

this time.

MTRR:

The methionine synthase reductase helps to recycle B12 for use by the MTR.

The A66G mutation appears to impair the acitivty of the enzyme.

MaoA:

This is the enzyme that breaks down serotonin. Individuals who are maoA +

break down serotonin more slowly, but may also be subject to mood swings due

to serotonin cycling from high to low levels. I have observed that

aggressive behaviors may in part be associated with maoA + + status.

ACE:

The designation of ACE + + is the same as saying that an individual is

positive for having deletions in both copies of the ACE gene. This can cause

increases in aldosterone levels. Aldosterone is also increased by stress.

The ACE deletions in combination with the maoA+ status may also play a role

in low frustration thresholds and increased anxiety.

SUOX:

The SUOX enzyme helps to detoxify sulfites that are generated due to

activity of the CBS gene. When we have increased CBS activity (CBS C699T+ or

C1080T+) then it can put an additional strain on the SUOX enzyme. Changes in

the SUOX S370S SNP appear to affect the function of this enzyme. Remember

that the + or - status is in relative term that reflects a comparison to a

database " norm " . In the case of SUOX, I find that a - denotes situations

where we are having a potential issue with this SNP. In virtually all cases

we are finding a + + status for the two SUOX markers. In rare cases I have

seen a single - for one of the two SUOX SNPs and this single - for SUOX

S370S appears to indicate a problem with SUOX function.

Individuals who are

CBS C699T+ (or CBS C1080T+) SUOX S370S -

will have greater difficulties with the use of sulfur donors. The presence

of CBS up regulations can serve to allow added methylation cycle support to

flow at a high level into the transsulfuration pathway causing increased

levels of sulfur byproducts and ammonia. The sulfites need to be detoxified

by the SUOX enzyme with the help of molybdenum. The SUOX - status indicates

that the ability to detoxify all of these sulfur (groups that are generated

by the CBS+ +) may be compromised. For those individuals with a CBS+ status

and the SUOX -status it will be really important to limit the ammonia and

sulfur in their system. You will also need to keep a very close eye on

molybdenum and magnesium levels as both of these essential minerals are

involved in either ammonia or sulfur detoxification. sulfur detoxification.

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Hi, Janet.

I've looked over your Yasko SNP panel results. Here are some

comments. I hope you other " Yasko treatment folks " out there will

chime in and correct any errors you see here.

The first thing to look for is any upregulation in the CBS

(cystathionine beta synthase) enzyme. You have a CBS A360A (+/+)

SNP. This is not the most severe one, but it is homozygous (2

copies), and it does upregulate the CBS enzyme. This causes

homocysteine to be converted to methionine more rapidly than normal,

and decreases the flow within the methylation cycle from

homocysteine to methionine. Dr. Yasko calls this the " leaky

bathtub " situation, and says that it will raise cysteine, which in

turn will decrease the production rate of glutathione and increase

the rate of production of ammonia, taurine, sulfite and hydrogen

sulfide. We know that you tested low for glutathione in your red

blood cells, so this is consistent with that.

The next one to look at is SUOX (sulfite oxidase). Dr. Yasko says

that most of the autistic kids test (+/+) for this, so that's the

normal situation. When there is a (+/-) here, it's unusual, and it

signals a problem with the SUOX enzyme, so that it is less able to

convert sulfite to sulfate, which is the excretion form of sulfur.

You have SUOX S370S (+/-), so this means that you likely have a

problem with handling sulfites.

Taking your CBS and your SUOX together, I think this explains why

you are sensitive to both NAC and whey protein. These will add

sulfur metabolites to your body, and this combination means that you

will have difficulty handling them. I think this means that efforts

to build your glutathione will need to be focused on correcting the

issues in your methylation cycle first, rather than direct

approaches to raising your glutathione. Dr. Yasko recommends

keeping your levels of magnesium and molybdenum up in this

situation. Magnesium is important for the transsulfuration pathway,

and molybdenum is a cofactor for sulfite oxidase. It will also be

important to limit your total protein intake, and avoid foods and

supplements that are high in sulfur. Dr. Yasko's ammonia support

program may help. I'm not sure what this involves (maybe somebody

else can tell us), but taking a couple of activated charcoal

capsules at bedtime is probably part of it. I think the charcoal is

a good idea for you because of your detox SNPs as well, which we

discussed earlier. The charcoal should help you for both these

issues. If you find it constipating, raise your magnesium intake

with it.

Next, note that you don't have the MTR (methionine synthase) SNP,

which is good, and you have only one heterozygous SNP in MTRR

(methionine synthase reductase), which is MTRR A66G (+/-). This one

will slow the recycling of methylcobalamin (methyl B12) somewhat.

The best form of B12 for you to supplement, based on your other

SNPs, is probably methyl B12, but if you find that it gives you mood

swings, you can balance them by taking some methyl B12 and some

hydroxocobalamin.

Next, you don't have the main MTHFR (methylene tetrahydrofolate

reductase) SNP, which is good, but you do have MTHFR A1298C (+/-).

According to Dr. Yasko, this SNP will slow your rate of production

of tetrahydrobiopterin (BH4), which will impact your production of

dopamine and serotonin, as well as your urea cycle. However, your

COMT and VDR Bsm/Taq will partially compensate for this. You would

probably benefit from taking FolaPro for this, nevertheless.

Looking next at COMT (catechol-O-methyl transferase), you have three

SNPs. COMT V158M (+/-) and COMT H62H (+/-) will tend to slow this

enzyme, while COMT L136L (+/-) will tend to speed it up. Probably

the net effect will be slowing, and this will tend to raise your

dopamine levels.

Your VDR (vitamin D receptor) Bsm/Taq (+/-) will compensate somewhat

for the effects of the COMT SNPs on the dopamine levels, so this

should help to " mellow you out. " High dopamine levels, if present,

can lead to oscillation in dopamine because of a feedback loop, and

this can lead to mood swings, but this doesn't seem to be severe in

your case, because of the combination of SNPs that you have.

Your VDR Fok (+/-) may cause some difficulty in regulating your

blood sugar level. Dr. Yasko recommends her pancreatic support for

this. I don't know what that includes. Maybe somebody else can

tell us. I would guess that there's some chromium in it.

You have MAO A (monoamine oxidase A) R297R (+/-). This enzyme is

used to break down serotonin, and since this SNP slows it down, you

will likely have higher than normal levels of serotonin. This may

affect gut motility and may also tend to produce mood swings.

Your ACE (angiotensin converting enzyme) Del 16 (+/+) will cause the

level of this enzyme to be twice as high as normal, and that will

raise the levels of angiotensin II and aldosterone. The elevated

aldosterone will tend to raise the level of sodium in your blood and

lower potassium. It is possible that your adrenals will become

fatigued from this, in which case your aldosterone will drop, as

will your sodium, and potassium will rise. So it could go either

way, depending on the status of the adrenals. Together with your

MAO A (+/-), this SNP could also produce a low frustration threshold

and increased anxiety. This SNP is associated with greater risk of

heart disease.

O.K., that's what the individual SNPs mean. Now, what about

treatment? The following is based on what I believe Dr. Yasko's

advice would be with your set of SNPs. If you can get advice

directly from her, that would be better, and others may have some

corrections to what I say here.

I think the first thing she would say is to make sure you are not

getting excitotoxins in your diet, such as any foods with MSG or

things like it, or aspartame (Nutrisweet). Then I think she would

recommend limiting your intake of proteins and sulfur-containing

foods and supplements to decrease the flow into the transsulfuration

pathway and also to decrease the ammonia production. Then I think

she would recommend her ammonia support program to decrease your

body's ammonia load, because that is a neurotoxin and you might not

be dealing well with it because of your MTHFR SNP, which slows the

production of BHR and hinders the urea cycle, which normally deals

with ammonia.

Then I think she would advise speeding up the " backdoor "

or " shortcut " pathway to complete the methylation cycle, using

trimethylglycine, phosphatidylcholine and phosphatidylserine.

I think she would advise you to stick with this for a while, maybe a

month, to get the methylation cycle running well. During this time

you could also use the comprehensive gut/bacterial support program.

After about a month, I think she would recommend starting methyl B12

and FolaPro.

She would recommend monitoring your urine amino acids with the

Doctors Data urine amino acids test, and your urine organic acids

with a urinary organic acids test, such as the metabolic panel from

Genova Diagnsostics. When your levels of beta alanine, anserine and

carnosine drop and your methionine and taurine levels are normal on

the amino acids test, and when your FIGLU and methylmalonic acid

levels look good on your organic acids test, then you can add

dimethylglycine to start putting the brakes on the backdoor or

shortcut pathway, and encouraging the long way (the one that uses

B12 and folate).

Since you are female, I think she would recommend the use of CCK

(cholecystokinin) with a source of BH4 (tetrahydrobiopterin), malic

acid, EDTA and horsetail grass to aid in aluminum excretion, since

aluminum toxicity seems to be more of an issue in females.

(Aluminum blocks the other enzyme that converts BH2 to BH4, so that

makes the BH4 situation worse, adding to the problem caused by your

MTHFR SNP.) She says this will trigger detox and make you feel

miserable, but there is no way around having to go through detox.

She says you can control the rate of detox by backing off on these

supplements, and even stopping them for a few days if you need to.

She also has some things she recommends for taking the edge off

detox, They are called " HF, NC, Behavior and Stress. I don't know

what they consist of. Maybe someone else can help here.

Now, how do we put together what we learned from your glutathione

and Detoxigenomic tests with these results? Dr. Yasko doesn't

consider this, so I'm " winging it " a little here. First, as I said

above, we know your glutathione is low from your RBC test, and that

is consistent with having the SNPs in your methylation cycle that

you have. Second, as I said above, because of your CBS and SUOX

SNPs, the direct approaches to building your glutathione are not

likely to work well, and I think you have already found this out the

hard way!

Also, as I said above, I think that taking activated charcoal

capsules could help to compensate both for your problems in detoxing

and for your ammonia issue arising from your CBS SNP. So that

should fit together well. Since you also need to keep your

magnesium up, that may work well for you too, because you might need

more magnesium to avoid constipation from taking the activated

charcoal.

You can see that the COMT SNP that was characterized in your

Detoxigenomic panel came out the same in your Yasko panel, and it's

kind of reassuring that they agree.

Raising your sulfate would probably be a good idea, such as by

taking Epsom salts orally or bathing in them, or both. This will

raise your magnesium, which you likely need, as mentioned already,

and it will also raise your sulfate. This will make up for your

inability to convert sulfite to sulfate as rapidly as normal, and

also should help your detox, because sulfation is one of the main

phase II detox pathways, and raising it might help to partially make

up for your problems with glutathione transferase enzymes, which

will slow the glutathionation phase II detox pathway.

Beyond these things, I think that the other suggestions I made in

connection with discussion of your Detoxigenomic profile still hold.

I would advise you to get wired in with Dr. Yasko's discussion group

at http://www.autismanswer.com in order to get the benefits of the

experience of others and to get answers about details of the

treatments. Also, pages 138 through 142 of the book Genetic Bypass,

which I think you received a copy of with the Yasko test kit, apply

to your set of SNPs. However, I don't think that taking SAMe (which

contains sulfur) would be a good idea, at least early on, because of

your CBS and SUOX SNPs, which are not considered on those pages.

I hope this helps.

Rich

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Posted
Posted

Hi Rich,

I have been living on Autism Answer more and more and this is what I have

discovered. You are right, trying to directly supplement with glutathione is not

going to work for me until I get the ammonia down. For me when I do supplement

with glutathione it increases my ammonia and the yeast love that, most probably

my gut PH is off also and that only encourages the yeast as well. So that

explains my yeast infection when I directly try to supplement with glutathione.

My plan of attack is to do her Ammonia protocoll first and see if I can get that

under control.I only have 8 ounces of protein a day plus on egg. I hope I can

still get away with that!!!

I have also ordered the Kidney and Pancreas support this morning to support

those organs and I guess I am going to bite the bullet and order the RNA Ammonia

(ouch, $110.00) but I know it is crucial for me to ge that ammonia down or I

will never be able to raise my glutathione!

As far as being " mellowed out " I would never describe myself that way! (I wish

I could.) I am hard driving, frustration level is low and anxiety fairly high.

However, this does enable me to be focused and get things done. It will help me

learn this stuff and get well, so I guess something is good about it!

I am already using adrenal support and have been looking into L-tryptophan. DO

YOU THINK THIS IS A GOOD WAY TO GO??? 5HTP has never agreed with me!!!

I cannot tolerate MSG but I do love my life savers and they have nutrisweet in

them. Dang it!!! I know I will have to stop them.

I think and you tell me, should I do one thing at a time?? Start the ammonia

protocoll, with the step one and then wait before I add in the TMG,

phosphatidylcholine and phosphatidylserine??? I have already done the

phosphatidylcholine and it helps me. I aleady have in place the mithochondira

suuport as well and this improved my status. (I JUST DON'T WANT TO MAKE MORE

AMMONIA USING THE IMPROPER THINGS AT THE IMPROPER TIME!!! WHAT DO YOU THINK ????

I am already using methyl B12 and Fola Pro also.

I am doing to start the ammonia protocoll and wait a couple of months, then

run a urine amino acides tests looking for taurine and ammonia. I hope I will be

making some inroads by then.

Getting this BH4 looks complicated and expensive to me. DO YOU KNOW OF A

SOURCE IN THE US OR CAN YOU HELP ME IN THIS AREA????

I have felt miserable all my life, a little detox won't kill me as long as I

know what it is!

Taking Epsom salts orally???? Is their a brand out there for that??? Help???

Rich, thank you for all your help. I feel this is " pay dirt " for me, the root

so to speak of getting my body the best it can be and finally having a life! I

hope to get it accomplished in a year, two at the outside! I know I have mercury

issues as well.

THANK YOU FOR YOUR TIME AND ENERGY,

Janet

in San Diego

rvankonynen <richvank@...> wrote:

Hi, Janet.

I've looked over your Yasko SNP panel results. Here are some

comments. I hope you other " Yasko treatment folks " out there will

chime in and correct any errors you see here.

The first thing to look for is any upregulation in the CBS

(cystathionine beta synthase) enzyme. You have a CBS A360A (+/+)

SNP. This is not the most severe one, but it is homozygous (2

copies), and it does upregulate the CBS enzyme. This causes

homocysteine to be converted to methionine more rapidly than normal,

and decreases the flow within the methylation cycle from

homocysteine to methionine. Dr. Yasko calls this the " leaky

bathtub " situation, and says that it will raise cysteine, which in

turn will decrease the production rate of glutathione and increase

the rate of production of ammonia, taurine, sulfite and hydrogen

sulfide. We know that you tested low for glutathione in your red

blood cells, so this is consistent with that.

The next one to look at is SUOX (sulfite oxidase). Dr. Yasko says

that most of the autistic kids test (+/+) for this, so that's the

normal situation. When there is a (+/-) here, it's unusual, and it

signals a problem with the SUOX enzyme, so that it is less able to

convert sulfite to sulfate, which is the excretion form of sulfur.

You have SUOX S370S (+/-), so this means that you likely have a

problem with handling sulfites.

Taking your CBS and your SUOX together, I think this explains why

you are sensitive to both NAC and whey protein. These will add

sulfur metabolites to your body, and this combination means that you

will have difficulty handling them. I think this means that efforts

to build your glutathione will need to be focused on correcting the

issues in your methylation cycle first, rather than direct

approaches to raising your glutathione. Dr. Yasko recommends

keeping your levels of magnesium and molybdenum up in this

situation. Magnesium is important for the transsulfuration pathway,

and molybdenum is a cofactor for sulfite oxidase. It will also be

important to limit your total protein intake, and avoid foods and

supplements that are high in sulfur. Dr. Yasko's ammonia support

program may help. I'm not sure what this involves (maybe somebody

else can tell us), but taking a couple of activated charcoal

capsules at bedtime is probably part of it. I think the charcoal is

a good idea for you because of your detox SNPs as well, which we

discussed earlier. The charcoal should help you for both these

issues. If you find it constipating, raise your magnesium intake

with it.

Next, note that you don't have the MTR (methionine synthase) SNP,

which is good, and you have only one heterozygous SNP in MTRR

(methionine synthase reductase), which is MTRR A66G (+/-). This one

will slow the recycling of methylcobalamin (methyl B12) somewhat.

The best form of B12 for you to supplement, based on your other

SNPs, is probably methyl B12, but if you find that it gives you mood

swings, you can balance them by taking some methyl B12 and some

hydroxocobalamin.

Next, you don't have the main MTHFR (methylene tetrahydrofolate

reductase) SNP, which is good, but you do have MTHFR A1298C (+/-).

According to Dr. Yasko, this SNP will slow your rate of production

of tetrahydrobiopterin (BH4), which will impact your production of

dopamine and serotonin, as well as your urea cycle. However, your

COMT and VDR Bsm/Taq will partially compensate for this. You would

probably benefit from taking FolaPro for this, nevertheless.

Looking next at COMT (catechol-O-methyl transferase), you have three

SNPs. COMT V158M (+/-) and COMT H62H (+/-) will tend to slow this

enzyme, while COMT L136L (+/-) will tend to speed it up. Probably

the net effect will be slowing, and this will tend to raise your

dopamine levels.

Your VDR (vitamin D receptor) Bsm/Taq (+/-) will compensate somewhat

for the effects of the COMT SNPs on the dopamine levels, so this

should help to " mellow you out. " High dopamine levels, if present,

can lead to oscillation in dopamine because of a feedback loop, and

this can lead to mood swings, but this doesn't seem to be severe in

your case, because of the combination of SNPs that you have.

Your VDR Fok (+/-) may cause some difficulty in regulating your

blood sugar level. Dr. Yasko recommends her pancreatic support for

this. I don't know what that includes. Maybe somebody else can

tell us. I would guess that there's some chromium in it.

You have MAO A (monoamine oxidase A) R297R (+/-). This enzyme is

used to break down serotonin, and since this SNP slows it down, you

will likely have higher than normal levels of serotonin. This may

affect gut motility and may also tend to produce mood swings.

Your ACE (angiotensin converting enzyme) Del 16 (+/+) will cause the

level of this enzyme to be twice as high as normal, and that will

raise the levels of angiotensin II and aldosterone. The elevated

aldosterone will tend to raise the level of sodium in your blood and

lower potassium. It is possible that your adrenals will become

fatigued from this, in which case your aldosterone will drop, as

will your sodium, and potassium will rise. So it could go either

way, depending on the status of the adrenals. Together with your

MAO A (+/-), this SNP could also produce a low frustration threshold

and increased anxiety. This SNP is associated with greater risk of

heart disease.

O.K., that's what the individual SNPs mean. Now, what about

treatment? The following is based on what I believe Dr. Yasko's

advice would be with your set of SNPs. If you can get advice

directly from her, that would be better, and others may have some

corrections to what I say here.

I think the first thing she would say is to make sure you are not

getting excitotoxins in your diet, such as any foods with MSG or

things like it, or aspartame (Nutrisweet). Then I think she would

recommend limiting your intake of proteins and sulfur-containing

foods and supplements to decrease the flow into the transsulfuration

pathway and also to decrease the ammonia production. Then I think

she would recommend her ammonia support program to decrease your

body's ammonia load, because that is a neurotoxin and you might not

be dealing well with it because of your MTHFR SNP, which slows the

production of BHR and hinders the urea cycle, which normally deals

with ammonia.

Then I think she would advise speeding up the " backdoor "

or " shortcut " pathway to complete the methylation cycle, using

trimethylglycine, phosphatidylcholine and phosphatidylserine.

I think she would advise you to stick with this for a while, maybe a

month, to get the methylation cycle running well. During this time

you could also use the comprehensive gut/bacterial support program.

After about a month, I think she would recommend starting methyl B12

and FolaPro.

She would recommend monitoring your urine amino acids with the

Doctors Data urine amino acids test, and your urine organic acids

with a urinary organic acids test, such as the metabolic panel from

Genova Diagnsostics. When your levels of beta alanine, anserine and

carnosine drop and your methionine and taurine levels are normal on

the amino acids test, and when your FIGLU and methylmalonic acid

levels look good on your organic acids test, then you can add

dimethylglycine to start putting the brakes on the backdoor or

shortcut pathway, and encouraging the long way (the one that uses

B12 and folate).

Since you are female, I think she would recommend the use of CCK

(cholecystokinin) with a source of BH4 (tetrahydrobiopterin), malic

acid, EDTA and horsetail grass to aid in aluminum excretion, since

aluminum toxicity seems to be more of an issue in females.

(Aluminum blocks the other enzyme that converts BH2 to BH4, so that

makes the BH4 situation worse, adding to the problem caused by your

MTHFR SNP.) She says this will trigger detox and make you feel

miserable, but there is no way around having to go through detox.

She says you can control the rate of detox by backing off on these

supplements, and even stopping them for a few days if you need to.

She also has some things she recommends for taking the edge off

detox, They are called " HF, NC, Behavior and Stress. I don't know

what they consist of. Maybe someone else can help here.

Now, how do we put together what we learned from your glutathione

and Detoxigenomic tests with these results? Dr. Yasko doesn't

consider this, so I'm " winging it " a little here. First, as I said

above, we know your glutathione is low from your RBC test, and that

is consistent with having the SNPs in your methylation cycle that

you have. Second, as I said above, because of your CBS and SUOX

SNPs, the direct approaches to building your glutathione are not

likely to work well, and I think you have already found this out the

hard way!

Also, as I said above, I think that taking activated charcoal

capsules could help to compensate both for your problems in detoxing

and for your ammonia issue arising from your CBS SNP. So that

should fit together well. Since you also need to keep your

magnesium up, that may work well for you too, because you might need

more magnesium to avoid constipation from taking the activated

charcoal.

You can see that the COMT SNP that was characterized in your

Detoxigenomic panel came out the same in your Yasko panel, and it's

kind of reassuring that they agree.

Raising your sulfate would probably be a good idea, such as by

taking Epsom salts orally or bathing in them, or both. This will

raise your magnesium, which you likely need, as mentioned already,

and it will also raise your sulfate. This will make up for your

inability to convert sulfite to sulfate as rapidly as normal, and

also should help your detox, because sulfation is one of the main

phase II detox pathways, and raising it might help to partially make

up for your problems with glutathione transferase enzymes, which

will slow the glutathionation phase II detox pathway.

Beyond these things, I think that the other suggestions I made in

connection with discussion of your Detoxigenomic profile still hold.

I would advise you to get wired in with Dr. Yasko's discussion group

at http://www.autismanswer.com in order to get the benefits of the

experience of others and to get answers about details of the

treatments. Also, pages 138 through 142 of the book Genetic Bypass,

which I think you received a copy of with the Yasko test kit, apply

to your set of SNPs. However, I don't think that taking SAMe (which

contains sulfur) would be a good idea, at least early on, because of

your CBS and SUOX SNPs, which are not considered on those pages.

I hope this helps.

Rich

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Posted
Posted

Janet, Hi.

Could you please, if possible, detail for us the " ammonia protocol. " I am not

planning to try anything prematurely, but would like to learn this stuff a piece

at a time.

Sure would appreciate it.

Thanks,

Adrienne

Re: Re: I GOT MY GENETICS BACK FROM YASKO!!!

RICH, PLEASE HELP ME.

Hi Rich,

I have been living on Autism Answer more and more and this is what I have

discovered. You are right, trying to directly supplement with glutathione is not

going to work for me until I get the ammonia down. For me when I do supplement

with glutathione it increases my ammonia and the yeast love that, most probably

my gut PH is off also and that only encourages the yeast as well. So that

explains my yeast infection when I directly try to supplement with glutathione.

My plan of attack is to do her Ammonia protocoll first and see if I can get that

under control.I only have 8 ounces of protein a day plus on egg. I hope I can

still get away with that!!!

I have also ordered the Kidney and Pancreas support this morning to support

those organs and I guess I am going to bite the bullet and order the RNA Ammonia

(ouch, $110.00) but I know it is crucial for me to ge that ammonia down or I

will never be able to raise my glutathione!

As far as being " mellowed out " I would never describe myself that way! (I

wish I could.) I am hard driving, frustration level is low and anxiety fairly

high. However, this does enable me to be focused and get things done. It will

help me learn this stuff and get well, so I guess something is good about it!

I am already using adrenal support and have been looking into L-tryptophan.

DO YOU THINK THIS IS A GOOD WAY TO GO??? 5HTP has never agreed with me!!!

I cannot tolerate MSG but I do love my life savers and they have nutrisweet

in them. Dang it!!! I know I will have to stop them.

I think and you tell me, should I do one thing at a time?? Start the ammonia

protocoll, with the step one and then wait before I add in the TMG,

phosphatidylcholine and phosphatidylserine??? I have already done the

phosphatidylcholine and it helps me. I aleady have in place the mithochondira

suuport as well and this improved my status. (I JUST DON'T WANT TO MAKE MORE

AMMONIA USING THE IMPROPER THINGS AT THE IMPROPER TIME!!! WHAT DO YOU THINK ????

I am already using methyl B12 and Fola Pro also.

I am doing to start the ammonia protocoll and wait a couple of months, then

run a urine amino acides tests looking for taurine and ammonia. I hope I will be

making some inroads by then.

Getting this BH4 looks complicated and expensive to me. DO YOU KNOW OF A

SOURCE IN THE US OR CAN YOU HELP ME IN THIS AREA????

I have felt miserable all my life, a little detox won't kill me as long as I

know what it is!

Taking Epsom salts orally???? Is their a brand out there for that??? Help???

Rich, thank you for all your help. I feel this is " pay dirt " for me, the

root so to speak of getting my body the best it can be and finally having a

life! I hope to get it accomplished in a year, two at the outside! I know I have

mercury issues as well.

THANK YOU FOR YOUR TIME AND ENERGY,

Janet

in San Diego

rvankonynen <richvank@...> wrote:

Hi, Janet.

I've looked over your Yasko SNP panel results. Here are some

comments. I hope you other " Yasko treatment folks " out there will

chime in and correct any errors you see here.

The first thing to look for is any upregulation in the CBS

(cystathionine beta synthase) enzyme. You have a CBS A360A (+/+)

SNP. This is not the most severe one, but it is homozygous (2

copies), and it does upregulate the CBS enzyme. This causes

homocysteine to be converted to methionine more rapidly than normal,

and decreases the flow within the methylation cycle from

homocysteine to methionine. Dr. Yasko calls this the " leaky

bathtub " situation, and says that it will raise cysteine, which in

turn will decrease the production rate of glutathione and increase

the rate of production of ammonia, taurine, sulfite and hydrogen

sulfide. We know that you tested low for glutathione in your red

blood cells, so this is consistent with that.

The next one to look at is SUOX (sulfite oxidase). Dr. Yasko says

that most of the autistic kids test (+/+) for this, so that's the

normal situation. When there is a (+/-) here, it's unusual, and it

signals a problem with the SUOX enzyme, so that it is less able to

convert sulfite to sulfate, which is the excretion form of sulfur.

You have SUOX S370S (+/-), so this means that you likely have a

problem with handling sulfites.

Taking your CBS and your SUOX together, I think this explains why

you are sensitive to both NAC and whey protein. These will add

sulfur metabolites to your body, and this combination means that you

will have difficulty handling them. I think this means that efforts

to build your glutathione will need to be focused on correcting the

issues in your methylation cycle first, rather than direct

approaches to raising your glutathione. Dr. Yasko recommends

keeping your levels of magnesium and molybdenum up in this

situation. Magnesium is important for the transsulfuration pathway,

and molybdenum is a cofactor for sulfite oxidase. It will also be

important to limit your total protein intake, and avoid foods and

supplements that are high in sulfur. Dr. Yasko's ammonia support

program may help. I'm not sure what this involves (maybe somebody

else can tell us), but taking a couple of activated charcoal

capsules at bedtime is probably part of it. I think the charcoal is

a good idea for you because of your detox SNPs as well, which we

discussed earlier. The charcoal should help you for both these

issues. If you find it constipating, raise your magnesium intake

with it.

Next, note that you don't have the MTR (methionine synthase) SNP,

which is good, and you have only one heterozygous SNP in MTRR

(methionine synthase reductase), which is MTRR A66G (+/-). This one

will slow the recycling of methylcobalamin (methyl B12) somewhat.

The best form of B12 for you to supplement, based on your other

SNPs, is probably methyl B12, but if you find that it gives you mood

swings, you can balance them by taking some methyl B12 and some

hydroxocobalamin.

Next, you don't have the main MTHFR (methylene tetrahydrofolate

reductase) SNP, which is good, but you do have MTHFR A1298C (+/-).

According to Dr. Yasko, this SNP will slow your rate of production

of tetrahydrobiopterin (BH4), which will impact your production of

dopamine and serotonin, as well as your urea cycle. However, your

COMT and VDR Bsm/Taq will partially compensate for this. You would

probably benefit from taking FolaPro for this, nevertheless.

Looking next at COMT (catechol-O-methyl transferase), you have three

SNPs. COMT V158M (+/-) and COMT H62H (+/-) will tend to slow this

enzyme, while COMT L136L (+/-) will tend to speed it up. Probably

the net effect will be slowing, and this will tend to raise your

dopamine levels.

Your VDR (vitamin D receptor) Bsm/Taq (+/-) will compensate somewhat

for the effects of the COMT SNPs on the dopamine levels, so this

should help to " mellow you out. " High dopamine levels, if present,

can lead to oscillation in dopamine because of a feedback loop, and

this can lead to mood swings, but this doesn't seem to be severe in

your case, because of the combination of SNPs that you have.

Your VDR Fok (+/-) may cause some difficulty in regulating your

blood sugar level. Dr. Yasko recommends her pancreatic support for

this. I don't know what that includes. Maybe somebody else can

tell us. I would guess that there's some chromium in it.

You have MAO A (monoamine oxidase A) R297R (+/-). This enzyme is

used to break down serotonin, and since this SNP slows it down, you

will likely have higher than normal levels of serotonin. This may

affect gut motility and may also tend to produce mood swings.

Your ACE (angiotensin converting enzyme) Del 16 (+/+) will cause the

level of this enzyme to be twice as high as normal, and that will

raise the levels of angiotensin II and aldosterone. The elevated

aldosterone will tend to raise the level of sodium in your blood and

lower potassium. It is possible that your adrenals will become

fatigued from this, in which case your aldosterone will drop, as

will your sodium, and potassium will rise. So it could go either

way, depending on the status of the adrenals. Together with your

MAO A (+/-), this SNP could also produce a low frustration threshold

and increased anxiety. This SNP is associated with greater risk of

heart disease.

O.K., that's what the individual SNPs mean. Now, what about

treatment? The following is based on what I believe Dr. Yasko's

advice would be with your set of SNPs. If you can get advice

directly from her, that would be better, and others may have some

corrections to what I say here.

I think the first thing she would say is to make sure you are not

getting excitotoxins in your diet, such as any foods with MSG or

things like it, or aspartame (Nutrisweet). Then I think she would

recommend limiting your intake of proteins and sulfur-containing

foods and supplements to decrease the flow into the transsulfuration

pathway and also to decrease the ammonia production. Then I think

she would recommend her ammonia support program to decrease your

body's ammonia load, because that is a neurotoxin and you might not

be dealing well with it because of your MTHFR SNP, which slows the

production of BHR and hinders the urea cycle, which normally deals

with ammonia.

Then I think she would advise speeding up the " backdoor "

or " shortcut " pathway to complete the methylation cycle, using

trimethylglycine, phosphatidylcholine and phosphatidylserine.

I think she would advise you to stick with this for a while, maybe a

month, to get the methylation cycle running well. During this time

you could also use the comprehensive gut/bacterial support program.

After about a month, I think she would recommend starting methyl B12

and FolaPro.

She would recommend monitoring your urine amino acids with the

Doctors Data urine amino acids test, and your urine organic acids

with a urinary organic acids test, such as the metabolic panel from

Genova Diagnsostics. When your levels of beta alanine, anserine and

carnosine drop and your methionine and taurine levels are normal on

the amino acids test, and when your FIGLU and methylmalonic acid

levels look good on your organic acids test, then you can add

dimethylglycine to start putting the brakes on the backdoor or

shortcut pathway, and encouraging the long way (the one that uses

B12 and folate).

Since you are female, I think she would recommend the use of CCK

(cholecystokinin) with a source of BH4 (tetrahydrobiopterin), malic

acid, EDTA and horsetail grass to aid in aluminum excretion, since

aluminum toxicity seems to be more of an issue in females.

(Aluminum blocks the other enzyme that converts BH2 to BH4, so that

makes the BH4 situation worse, adding to the problem caused by your

MTHFR SNP.) She says this will trigger detox and make you feel

miserable, but there is no way around having to go through detox.

She says you can control the rate of detox by backing off on these

supplements, and even stopping them for a few days if you need to.

She also has some things she recommends for taking the edge off

detox, They are called " HF, NC, Behavior and Stress. I don't know

what they consist of. Maybe someone else can help here.

Now, how do we put together what we learned from your glutathione

and Detoxigenomic tests with these results? Dr. Yasko doesn't

consider this, so I'm " winging it " a little here. First, as I said

above, we know your glutathione is low from your RBC test, and that

is consistent with having the SNPs in your methylation cycle that

you have. Second, as I said above, because of your CBS and SUOX

SNPs, the direct approaches to building your glutathione are not

likely to work well, and I think you have already found this out the

hard way!

Also, as I said above, I think that taking activated charcoal

capsules could help to compensate both for your problems in detoxing

and for your ammonia issue arising from your CBS SNP. So that

should fit together well. Since you also need to keep your

magnesium up, that may work well for you too, because you might need

more magnesium to avoid constipation from taking the activated

charcoal.

You can see that the COMT SNP that was characterized in your

Detoxigenomic panel came out the same in your Yasko panel, and it's

kind of reassuring that they agree.

Raising your sulfate would probably be a good idea, such as by

taking Epsom salts orally or bathing in them, or both. This will

raise your magnesium, which you likely need, as mentioned already,

and it will also raise your sulfate. This will make up for your

inability to convert sulfite to sulfate as rapidly as normal, and

also should help your detox, because sulfation is one of the main

phase II detox pathways, and raising it might help to partially make

up for your problems with glutathione transferase enzymes, which

will slow the glutathionation phase II detox pathway.

Beyond these things, I think that the other suggestions I made in

connection with discussion of your Detoxigenomic profile still hold.

I would advise you to get wired in with Dr. Yasko's discussion group

at http://www.autismanswer.com in order to get the benefits of the

experience of others and to get answers about details of the

treatments. Also, pages 138 through 142 of the book Genetic Bypass,

which I think you received a copy of with the Yasko test kit, apply

to your set of SNPs. However, I don't think that taking SAMe (which

contains sulfur) would be a good idea, at least early on, because of

your CBS and SUOX SNPs, which are not considered on those pages.

I hope this helps.

Rich

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Posted

HI Adrienne,

This stuff is pretty complicated!!! Lots of things to consider, but just

lightly its low protien, RNA Ammonia, Yucca and some activated charcoal.

You know the body is all one piece. Take a look at autismanswer.com

Janet

" Adrienne G. " <duckblossm@...> wrote:

Janet, Hi.

Could you please, if possible, detail for us the " ammonia protocol. " I am not

planning to try anything prematurely, but would like to learn this stuff a piece

at a time.

Sure would appreciate it.

Thanks,

Adrienne

Re: Re: I GOT MY GENETICS BACK FROM YASKO!!! RICH,

PLEASE HELP ME.

Hi Rich,

I have been living on Autism Answer more and more and this is what I have

discovered. You are right, trying to directly supplement with glutathione is not

going to work for me until I get the ammonia down. For me when I do supplement

with glutathione it increases my ammonia and the yeast love that, most probably

my gut PH is off also and that only encourages the yeast as well. So that

explains my yeast infection when I directly try to supplement with glutathione.

My plan of attack is to do her Ammonia protocoll first and see if I can get that

under control.I only have 8 ounces of protein a day plus on egg. I hope I can

still get away with that!!!

I have also ordered the Kidney and Pancreas support this morning to support

those organs and I guess I am going to bite the bullet and order the RNA Ammonia

(ouch, $110.00) but I know it is crucial for me to ge that ammonia down or I

will never be able to raise my glutathione!

As far as being " mellowed out " I would never describe myself that way! (I wish I

could.) I am hard driving, frustration level is low and anxiety fairly high.

However, this does enable me to be focused and get things done. It will help me

learn this stuff and get well, so I guess something is good about it!

I am already using adrenal support and have been looking into L-tryptophan. DO

YOU THINK THIS IS A GOOD WAY TO GO??? 5HTP has never agreed with me!!!

I cannot tolerate MSG but I do love my life savers and they have nutrisweet in

them. Dang it!!! I know I will have to stop them.

I think and you tell me, should I do one thing at a time?? Start the ammonia

protocoll, with the step one and then wait before I add in the TMG,

phosphatidylcholine and phosphatidylserine??? I have already done the

phosphatidylcholine and it helps me. I aleady have in place the mithochondira

suuport as well and this improved my status. (I JUST DON'T WANT TO MAKE MORE

AMMONIA USING THE IMPROPER THINGS AT THE IMPROPER TIME!!! WHAT DO YOU THINK ????

I am already using methyl B12 and Fola Pro also.

I am doing to start the ammonia protocoll and wait a couple of months, then run

a urine amino acides tests looking for taurine and ammonia. I hope I will be

making some inroads by then.

Getting this BH4 looks complicated and expensive to me. DO YOU KNOW OF A SOURCE

IN THE US OR CAN YOU HELP ME IN THIS AREA????

I have felt miserable all my life, a little detox won't kill me as long as I

know what it is!

Taking Epsom salts orally???? Is their a brand out there for that??? Help???

Rich, thank you for all your help. I feel this is " pay dirt " for me, the root so

to speak of getting my body the best it can be and finally having a life! I hope

to get it accomplished in a year, two at the outside! I know I have mercury

issues as well.

THANK YOU FOR YOUR TIME AND ENERGY,

Janet

in San Diego

rvankonynen <richvank@...> wrote:

Hi, Janet.

I've looked over your Yasko SNP panel results. Here are some

comments. I hope you other " Yasko treatment folks " out there will

chime in and correct any errors you see here.

The first thing to look for is any upregulation in the CBS

(cystathionine beta synthase) enzyme. You have a CBS A360A (+/+)

SNP. This is not the most severe one, but it is homozygous (2

copies), and it does upregulate the CBS enzyme. This causes

homocysteine to be converted to methionine more rapidly than normal,

and decreases the flow within the methylation cycle from

homocysteine to methionine. Dr. Yasko calls this the " leaky

bathtub " situation, and says that it will raise cysteine, which in

turn will decrease the production rate of glutathione and increase

the rate of production of ammonia, taurine, sulfite and hydrogen

sulfide. We know that you tested low for glutathione in your red

blood cells, so this is consistent with that.

The next one to look at is SUOX (sulfite oxidase). Dr. Yasko says

that most of the autistic kids test (+/+) for this, so that's the

normal situation. When there is a (+/-) here, it's unusual, and it

signals a problem with the SUOX enzyme, so that it is less able to

convert sulfite to sulfate, which is the excretion form of sulfur.

You have SUOX S370S (+/-), so this means that you likely have a

problem with handling sulfites.

Taking your CBS and your SUOX together, I think this explains why

you are sensitive to both NAC and whey protein. These will add

sulfur metabolites to your body, and this combination means that you

will have difficulty handling them. I think this means that efforts

to build your glutathione will need to be focused on correcting the

issues in your methylation cycle first, rather than direct

approaches to raising your glutathione. Dr. Yasko recommends

keeping your levels of magnesium and molybdenum up in this

situation. Magnesium is important for the transsulfuration pathway,

and molybdenum is a cofactor for sulfite oxidase. It will also be

important to limit your total protein intake, and avoid foods and

supplements that are high in sulfur. Dr. Yasko's ammonia support

program may help. I'm not sure what this involves (maybe somebody

else can tell us), but taking a couple of activated charcoal

capsules at bedtime is probably part of it. I think the charcoal is

a good idea for you because of your detox SNPs as well, which we

discussed earlier. The charcoal should help you for both these

issues. If you find it constipating, raise your magnesium intake

with it.

Next, note that you don't have the MTR (methionine synthase) SNP,

which is good, and you have only one heterozygous SNP in MTRR

(methionine synthase reductase), which is MTRR A66G (+/-). This one

will slow the recycling of methylcobalamin (methyl B12) somewhat.

The best form of B12 for you to supplement, based on your other

SNPs, is probably methyl B12, but if you find that it gives you mood

swings, you can balance them by taking some methyl B12 and some

hydroxocobalamin.

Next, you don't have the main MTHFR (methylene tetrahydrofolate

reductase) SNP, which is good, but you do have MTHFR A1298C (+/-).

According to Dr. Yasko, this SNP will slow your rate of production

of tetrahydrobiopterin (BH4), which will impact your production of

dopamine and serotonin, as well as your urea cycle. However, your

COMT and VDR Bsm/Taq will partially compensate for this. You would

probably benefit from taking FolaPro for this, nevertheless.

Looking next at COMT (catechol-O-methyl transferase), you have three

SNPs. COMT V158M (+/-) and COMT H62H (+/-) will tend to slow this

enzyme, while COMT L136L (+/-) will tend to speed it up. Probably

the net effect will be slowing, and this will tend to raise your

dopamine levels.

Your VDR (vitamin D receptor) Bsm/Taq (+/-) will compensate somewhat

for the effects of the COMT SNPs on the dopamine levels, so this

should help to " mellow you out. " High dopamine levels, if present,

can lead to oscillation in dopamine because of a feedback loop, and

this can lead to mood swings, but this doesn't seem to be severe in

your case, because of the combination of SNPs that you have.

Your VDR Fok (+/-) may cause some difficulty in regulating your

blood sugar level. Dr. Yasko recommends her pancreatic support for

this. I don't know what that includes. Maybe somebody else can

tell us. I would guess that there's some chromium in it.

You have MAO A (monoamine oxidase A) R297R (+/-). This enzyme is

used to break down serotonin, and since this SNP slows it down, you

will likely have higher than normal levels of serotonin. This may

affect gut motility and may also tend to produce mood swings.

Your ACE (angiotensin converting enzyme) Del 16 (+/+) will cause the

level of this enzyme to be twice as high as normal, and that will

raise the levels of angiotensin II and aldosterone. The elevated

aldosterone will tend to raise the level of sodium in your blood and

lower potassium. It is possible that your adrenals will become

fatigued from this, in which case your aldosterone will drop, as

will your sodium, and potassium will rise. So it could go either

way, depending on the status of the adrenals. Together with your

MAO A (+/-), this SNP could also produce a low frustration threshold

and increased anxiety. This SNP is associated with greater risk of

heart disease.

O.K., that's what the individual SNPs mean. Now, what about

treatment? The following is based on what I believe Dr. Yasko's

advice would be with your set of SNPs. If you can get advice

directly from her, that would be better, and others may have some

corrections to what I say here.

I think the first thing she would say is to make sure you are not

getting excitotoxins in your diet, such as any foods with MSG or

things like it, or aspartame (Nutrisweet). Then I think she would

recommend limiting your intake of proteins and sulfur-containing

foods and supplements to decrease the flow into the transsulfuration

pathway and also to decrease the ammonia production. Then I think

she would recommend her ammonia support program to decrease your

body's ammonia load, because that is a neurotoxin and you might not

be dealing well with it because of your MTHFR SNP, which slows the

production of BHR and hinders the urea cycle, which normally deals

with ammonia.

Then I think she would advise speeding up the " backdoor "

or " shortcut " pathway to complete the methylation cycle, using

trimethylglycine, phosphatidylcholine and phosphatidylserine.

I think she would advise you to stick with this for a while, maybe a

month, to get the methylation cycle running well. During this time

you could also use the comprehensive gut/bacterial support program.

After about a month, I think she would recommend starting methyl B12

and FolaPro.

She would recommend monitoring your urine amino acids with the

Doctors Data urine amino acids test, and your urine organic acids

with a urinary organic acids test, such as the metabolic panel from

Genova Diagnsostics. When your levels of beta alanine, anserine and

carnosine drop and your methionine and taurine levels are normal on

the amino acids test, and when your FIGLU and methylmalonic acid

levels look good on your organic acids test, then you can add

dimethylglycine to start putting the brakes on the backdoor or

shortcut pathway, and encouraging the long way (the one that uses

B12 and folate).

Since you are female, I think she would recommend the use of CCK

(cholecystokinin) with a source of BH4 (tetrahydrobiopterin), malic

acid, EDTA and horsetail grass to aid in aluminum excretion, since

aluminum toxicity seems to be more of an issue in females.

(Aluminum blocks the other enzyme that converts BH2 to BH4, so that

makes the BH4 situation worse, adding to the problem caused by your

MTHFR SNP.) She says this will trigger detox and make you feel

miserable, but there is no way around having to go through detox.

She says you can control the rate of detox by backing off on these

supplements, and even stopping them for a few days if you need to.

She also has some things she recommends for taking the edge off

detox, They are called " HF, NC, Behavior and Stress. I don't know

what they consist of. Maybe someone else can help here.

Now, how do we put together what we learned from your glutathione

and Detoxigenomic tests with these results? Dr. Yasko doesn't

consider this, so I'm " winging it " a little here. First, as I said

above, we know your glutathione is low from your RBC test, and that

is consistent with having the SNPs in your methylation cycle that

you have. Second, as I said above, because of your CBS and SUOX

SNPs, the direct approaches to building your glutathione are not

likely to work well, and I think you have already found this out the

hard way!

Also, as I said above, I think that taking activated charcoal

capsules could help to compensate both for your problems in detoxing

and for your ammonia issue arising from your CBS SNP. So that

should fit together well. Since you also need to keep your

magnesium up, that may work well for you too, because you might need

more magnesium to avoid constipation from taking the activated

charcoal.

You can see that the COMT SNP that was characterized in your

Detoxigenomic panel came out the same in your Yasko panel, and it's

kind of reassuring that they agree.

Raising your sulfate would probably be a good idea, such as by

taking Epsom salts orally or bathing in them, or both. This will

raise your magnesium, which you likely need, as mentioned already,

and it will also raise your sulfate. This will make up for your

inability to convert sulfite to sulfate as rapidly as normal, and

also should help your detox, because sulfation is one of the main

phase II detox pathways, and raising it might help to partially make

up for your problems with glutathione transferase enzymes, which

will slow the glutathionation phase II detox pathway.

Beyond these things, I think that the other suggestions I made in

connection with discussion of your Detoxigenomic profile still hold.

I would advise you to get wired in with Dr. Yasko's discussion group

at http://www.autismanswer.com in order to get the benefits of the

experience of others and to get answers about details of the

treatments. Also, pages 138 through 142 of the book Genetic Bypass,

which I think you received a copy of with the Yasko test kit, apply

to your set of SNPs. However, I don't think that taking SAMe (which

contains sulfur) would be a good idea, at least early on, because of

your CBS and SUOX SNPs, which are not considered on those pages.

I hope this helps.

Rich

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Posted
Posted

There's tons of Yucca growing where I live!

Re: Re: I GOT MY GENETICS BACK FROM YASKO!!!

RICH, PLEASE HELP ME.

Hi Rich,

I have been living on Autism Answer more and more and this is what I have

discovered. You are right, trying to directly supplement with glutathione is not

going to work for me until I get the ammonia down. For me when I do supplement

with glutathione it increases my ammonia and the yeast love that, most probably

my gut PH is off also and that only encourages the yeast as well. So that

explains my yeast infection when I directly try to supplement with glutathione.

My plan of attack is to do her Ammonia protocoll first and see if I can get that

under control.I only have 8 ounces of protein a day plus on egg. I hope I can

still get away with that!!!

I have also ordered the Kidney and Pancreas support this morning to support

those organs and I guess I am going to bite the bullet and order the RNA Ammonia

(ouch, $110.00) but I know it is crucial for me to ge that ammonia down or I

will never be able to raise my glutathione!

As far as being " mellowed out " I would never describe myself that way! (I wish

I could.) I am hard driving, frustration level is low and anxiety fairly high.

However, this does enable me to be focused and get things done. It will help me

learn this stuff and get well, so I guess something is good about it!

I am already using adrenal support and have been looking into L-tryptophan. DO

YOU THINK THIS IS A GOOD WAY TO GO??? 5HTP has never agreed with me!!!

I cannot tolerate MSG but I do love my life savers and they have nutrisweet in

them. Dang it!!! I know I will have to stop them.

I think and you tell me, should I do one thing at a time?? Start the ammonia

protocoll, with the step one and then wait before I add in the TMG,

phosphatidylcholine and phosphatidylserine??? I have already done the

phosphatidylcholine and it helps me. I aleady have in place the mithochondira

suuport as well and this improved my status. (I JUST DON'T WANT TO MAKE MORE

AMMONIA USING THE IMPROPER THINGS AT THE IMPROPER TIME!!! WHAT DO YOU THINK ????

I am already using methyl B12 and Fola Pro also.

I am doing to start the ammonia protocoll and wait a couple of months, then

run a urine amino acides tests looking for taurine and ammonia. I hope I will be

making some inroads by then.

Getting this BH4 looks complicated and expensive to me. DO YOU KNOW OF A

SOURCE IN THE US OR CAN YOU HELP ME IN THIS AREA????

I have felt miserable all my life, a little detox won't kill me as long as I

know what it is!

Taking Epsom salts orally???? Is their a brand out there for that??? Help???

Rich, thank you for all your help. I feel this is " pay dirt " for me, the root

so to speak of getting my body the best it can be and finally having a life! I

hope to get it accomplished in a year, two at the outside! I know I have mercury

issues as well.

THANK YOU FOR YOUR TIME AND ENERGY,

Janet

in San Diego

rvankonynen <richvank@...> wrote:

Hi, Janet.

I've looked over your Yasko SNP panel results. Here are some

comments. I hope you other " Yasko treatment folks " out there will

chime in and correct any errors you see here.

The first thing to look for is any upregulation in the CBS

(cystathionine beta synthase) enzyme. You have a CBS A360A (+/+)

SNP. This is not the most severe one, but it is homozygous (2

copies), and it does upregulate the CBS enzyme. This causes

homocysteine to be converted to methionine more rapidly than normal,

and decreases the flow within the methylation cycle from

homocysteine to methionine. Dr. Yasko calls this the " leaky

bathtub " situation, and says that it will raise cysteine, which in

turn will decrease the production rate of glutathione and increase

the rate of production of ammonia, taurine, sulfite and hydrogen

sulfide. We know that you tested low for glutathione in your red

blood cells, so this is consistent with that.

The next one to look at is SUOX (sulfite oxidase). Dr. Yasko says

that most of the autistic kids test (+/+) for this, so that's the

normal situation. When there is a (+/-) here, it's unusual, and it

signals a problem with the SUOX enzyme, so that it is less able to

convert sulfite to sulfate, which is the excretion form of sulfur.

You have SUOX S370S (+/-), so this means that you likely have a

problem with handling sulfites.

Taking your CBS and your SUOX together, I think this explains why

you are sensitive to both NAC and whey protein. These will add

sulfur metabolites to your body, and this combination means that you

will have difficulty handling them. I think this means that efforts

to build your glutathione will need to be focused on correcting the

issues in your methylation cycle first, rather than direct

approaches to raising your glutathione. Dr. Yasko recommends

keeping your levels of magnesium and molybdenum up in this

situation. Magnesium is important for the transsulfuration pathway,

and molybdenum is a cofactor for sulfite oxidase. It will also be

important to limit your total protein intake, and avoid foods and

supplements that are high in sulfur. Dr. Yasko's ammonia support

program may help. I'm not sure what this involves (maybe somebody

else can tell us), but taking a couple of activated charcoal

capsules at bedtime is probably part of it. I think the charcoal is

a good idea for you because of your detox SNPs as well, which we

discussed earlier. The charcoal should help you for both these

issues. If you find it constipating, raise your magnesium intake

with it.

Next, note that you don't have the MTR (methionine synthase) SNP,

which is good, and you have only one heterozygous SNP in MTRR

(methionine synthase reductase), which is MTRR A66G (+/-). This one

will slow the recycling of methylcobalamin (methyl B12) somewhat.

The best form of B12 for you to supplement, based on your other

SNPs, is probably methyl B12, but if you find that it gives you mood

swings, you can balance them by taking some methyl B12 and some

hydroxocobalamin.

Next, you don't have the main MTHFR (methylene tetrahydrofolate

reductase) SNP, which is good, but you do have MTHFR A1298C (+/-).

According to Dr. Yasko, this SNP will slow your rate of production

of tetrahydrobiopterin (BH4), which will impact your production of

dopamine and serotonin, as well as your urea cycle. However, your

COMT and VDR Bsm/Taq will partially compensate for this. You would

probably benefit from taking FolaPro for this, nevertheless.

Looking next at COMT (catechol-O-methyl transferase), you have three

SNPs. COMT V158M (+/-) and COMT H62H (+/-) will tend to slow this

enzyme, while COMT L136L (+/-) will tend to speed it up. Probably

the net effect will be slowing, and this will tend to raise your

dopamine levels.

Your VDR (vitamin D receptor) Bsm/Taq (+/-) will compensate somewhat

for the effects of the COMT SNPs on the dopamine levels, so this

should help to " mellow you out. " High dopamine levels, if present,

can lead to oscillation in dopamine because of a feedback loop, and

this can lead to mood swings, but this doesn't seem to be severe in

your case, because of the combination of SNPs that you have.

Your VDR Fok (+/-) may cause some difficulty in regulating your

blood sugar level. Dr. Yasko recommends her pancreatic support for

this. I don't know what that includes. Maybe somebody else can

tell us. I would guess that there's some chromium in it.

You have MAO A (monoamine oxidase A) R297R (+/-). This enzyme is

used to break down serotonin, and since this SNP slows it down, you

will likely have higher than normal levels of serotonin. This may

affect gut motility and may also tend to produce mood swings.

Your ACE (angiotensin converting enzyme) Del 16 (+/+) will cause the

level of this enzyme to be twice as high as normal, and that will

raise the levels of angiotensin II and aldosterone. The elevated

aldosterone will tend to raise the level of sodium in your blood and

lower potassium. It is possible that your adrenals will become

fatigued from this, in which case your aldosterone will drop, as

will your sodium, and potassium will rise. So it could go either

way, depending on the status of the adrenals. Together with your

MAO A (+/-), this SNP could also produce a low frustration threshold

and increased anxiety. This SNP is associated with greater risk of

heart disease.

O.K., that's what the individual SNPs mean. Now, what about

treatment? The following is based on what I believe Dr. Yasko's

advice would be with your set of SNPs. If you can get advice

directly from her, that would be better, and others may have some

corrections to what I say here.

I think the first thing she would say is to make sure you are not

getting excitotoxins in your diet, such as any foods with MSG or

things like it, or aspartame (Nutrisweet). Then I think she would

recommend limiting your intake of proteins and sulfur-containing

foods and supplements to decrease the flow into the transsulfuration

pathway and also to decrease the ammonia production. Then I think

she would recommend her ammonia support program to decrease your

body's ammonia load, because that is a neurotoxin and you might not

be dealing well with it because of your MTHFR SNP, which slows the

production of BHR and hinders the urea cycle, which normally deals

with ammonia.

Then I think she would advise speeding up the " backdoor "

or " shortcut " pathway to complete the methylation cycle, using

trimethylglycine, phosphatidylcholine and phosphatidylserine.

I think she would advise you to stick with this for a while, maybe a

month, to get the methylation cycle running well. During this time

you could also use the comprehensive gut/bacterial support program.

After about a month, I think she would recommend starting methyl B12

and FolaPro.

She would recommend monitoring your urine amino acids with the

Doctors Data urine amino acids test, and your urine organic acids

with a urinary organic acids test, such as the metabolic panel from

Genova Diagnsostics. When your levels of beta alanine, anserine and

carnosine drop and your methionine and taurine levels are normal on

the amino acids test, and when your FIGLU and methylmalonic acid

levels look good on your organic acids test, then you can add

dimethylglycine to start putting the brakes on the backdoor or

shortcut pathway, and encouraging the long way (the one that uses

B12 and folate).

Since you are female, I think she would recommend the use of CCK

(cholecystokinin) with a source of BH4 (tetrahydrobiopterin), malic

acid, EDTA and horsetail grass to aid in aluminum excretion, since

aluminum toxicity seems to be more of an issue in females.

(Aluminum blocks the other enzyme that converts BH2 to BH4, so that

makes the BH4 situation worse, adding to the problem caused by your

MTHFR SNP.) She says this will trigger detox and make you feel

miserable, but there is no way around having to go through detox.

She says you can control the rate of detox by backing off on these

supplements, and even stopping them for a few days if you need to.

She also has some things she recommends for taking the edge off

detox, They are called " HF, NC, Behavior and Stress. I don't know

what they consist of. Maybe someone else can help here.

Now, how do we put together what we learned from your glutathione

and Detoxigenomic tests with these results? Dr. Yasko doesn't

consider this, so I'm " winging it " a little here. First, as I said

above, we know your glutathione is low from your RBC test, and that

is consistent with having the SNPs in your methylation cycle that

you have. Second, as I said above, because of your CBS and SUOX

SNPs, the direct approaches to building your glutathione are not

likely to work well, and I think you have already found this out the

hard way!

Also, as I said above, I think that taking activated charcoal

capsules could help to compensate both for your problems in detoxing

and for your ammonia issue arising from your CBS SNP. So that

should fit together well. Since you also need to keep your

magnesium up, that may work well for you too, because you might need

more magnesium to avoid constipation from taking the activated

charcoal.

You can see that the COMT SNP that was characterized in your

Detoxigenomic panel came out the same in your Yasko panel, and it's

kind of reassuring that they agree.

Raising your sulfate would probably be a good idea, such as by

taking Epsom salts orally or bathing in them, or both. This will

raise your magnesium, which you likely need, as mentioned already,

and it will also raise your sulfate. This will make up for your

inability to convert sulfite to sulfate as rapidly as normal, and

also should help your detox, because sulfation is one of the main

phase II detox pathways, and raising it might help to partially make

up for your problems with glutathione transferase enzymes, which

will slow the glutathionation phase II detox pathway.

Beyond these things, I think that the other suggestions I made in

connection with discussion of your Detoxigenomic profile still hold.

I would advise you to get wired in with Dr. Yasko's discussion group

at http://www.autismanswer.com in order to get the benefits of the

experience of others and to get answers about details of the

treatments. Also, pages 138 through 142 of the book Genetic Bypass,

which I think you received a copy of with the Yasko test kit, apply

to your set of SNPs. However, I don't think that taking SAMe (which

contains sulfur) would be a good idea, at least early on, because of

your CBS and SUOX SNPs, which are not considered on those pages.

I hope this helps.

Rich

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Posted
Posted

If you don't have the CBS mutathion you don't even have to do this step.

Jaent

" Adrienne G. " <duckblossm@...> wrote:

There's tons of Yucca growing where I live!

Re: Re: I GOT MY GENETICS BACK FROM YASKO!!! RICH,

PLEASE HELP ME.

Hi Rich,

I have been living on Autism Answer more and more and this is what I have

discovered. You are right, trying to directly supplement with glutathione is not

going to work for me until I get the ammonia down. For me when I do supplement

with glutathione it increases my ammonia and the yeast love that, most probably

my gut PH is off also and that only encourages the yeast as well. So that

explains my yeast infection when I directly try to supplement with glutathione.

My plan of attack is to do her Ammonia protocoll first and see if I can get that

under control.I only have 8 ounces of protein a day plus on egg. I hope I can

still get away with that!!!

I have also ordered the Kidney and Pancreas support this morning to support

those organs and I guess I am going to bite the bullet and order the RNA Ammonia

(ouch, $110.00) but I know it is crucial for me to ge that ammonia down or I

will never be able to raise my glutathione!

As far as being " mellowed out " I would never describe myself that way! (I wish I

could.) I am hard driving, frustration level is low and anxiety fairly high.

However, this does enable me to be focused and get things done. It will help me

learn this stuff and get well, so I guess something is good about it!

I am already using adrenal support and have been looking into L-tryptophan. DO

YOU THINK THIS IS A GOOD WAY TO GO??? 5HTP has never agreed with me!!!

I cannot tolerate MSG but I do love my life savers and they have nutrisweet in

them. Dang it!!! I know I will have to stop them.

I think and you tell me, should I do one thing at a time?? Start the ammonia

protocoll, with the step one and then wait before I add in the TMG,

phosphatidylcholine and phosphatidylserine??? I have already done the

phosphatidylcholine and it helps me. I aleady have in place the mithochondira

suuport as well and this improved my status. (I JUST DON'T WANT TO MAKE MORE

AMMONIA USING THE IMPROPER THINGS AT THE IMPROPER TIME!!! WHAT DO YOU THINK ????

I am already using methyl B12 and Fola Pro also.

I am doing to start the ammonia protocoll and wait a couple of months, then run

a urine amino acides tests looking for taurine and ammonia. I hope I will be

making some inroads by then.

Getting this BH4 looks complicated and expensive to me. DO YOU KNOW OF A SOURCE

IN THE US OR CAN YOU HELP ME IN THIS AREA????

I have felt miserable all my life, a little detox won't kill me as long as I

know what it is!

Taking Epsom salts orally???? Is their a brand out there for that??? Help???

Rich, thank you for all your help. I feel this is " pay dirt " for me, the root so

to speak of getting my body the best it can be and finally having a life! I hope

to get it accomplished in a year, two at the outside! I know I have mercury

issues as well.

THANK YOU FOR YOUR TIME AND ENERGY,

Janet

in San Diego

rvankonynen <richvank@...> wrote:

Hi, Janet.

I've looked over your Yasko SNP panel results. Here are some

comments. I hope you other " Yasko treatment folks " out there will

chime in and correct any errors you see here.

The first thing to look for is any upregulation in the CBS

(cystathionine beta synthase) enzyme. You have a CBS A360A (+/+)

SNP. This is not the most severe one, but it is homozygous (2

copies), and it does upregulate the CBS enzyme. This causes

homocysteine to be converted to methionine more rapidly than normal,

and decreases the flow within the methylation cycle from

homocysteine to methionine. Dr. Yasko calls this the " leaky

bathtub " situation, and says that it will raise cysteine, which in

turn will decrease the production rate of glutathione and increase

the rate of production of ammonia, taurine, sulfite and hydrogen

sulfide. We know that you tested low for glutathione in your red

blood cells, so this is consistent with that.

The next one to look at is SUOX (sulfite oxidase). Dr. Yasko says

that most of the autistic kids test (+/+) for this, so that's the

normal situation. When there is a (+/-) here, it's unusual, and it

signals a problem with the SUOX enzyme, so that it is less able to

convert sulfite to sulfate, which is the excretion form of sulfur.

You have SUOX S370S (+/-), so this means that you likely have a

problem with handling sulfites.

Taking your CBS and your SUOX together, I think this explains why

you are sensitive to both NAC and whey protein. These will add

sulfur metabolites to your body, and this combination means that you

will have difficulty handling them. I think this means that efforts

to build your glutathione will need to be focused on correcting the

issues in your methylation cycle first, rather than direct

approaches to raising your glutathione. Dr. Yasko recommends

keeping your levels of magnesium and molybdenum up in this

situation. Magnesium is important for the transsulfuration pathway,

and molybdenum is a cofactor for sulfite oxidase. It will also be

important to limit your total protein intake, and avoid foods and

supplements that are high in sulfur. Dr. Yasko's ammonia support

program may help. I'm not sure what this involves (maybe somebody

else can tell us), but taking a couple of activated charcoal

capsules at bedtime is probably part of it. I think the charcoal is

a good idea for you because of your detox SNPs as well, which we

discussed earlier. The charcoal should help you for both these

issues. If you find it constipating, raise your magnesium intake

with it.

Next, note that you don't have the MTR (methionine synthase) SNP,

which is good, and you have only one heterozygous SNP in MTRR

(methionine synthase reductase), which is MTRR A66G (+/-). This one

will slow the recycling of methylcobalamin (methyl B12) somewhat.

The best form of B12 for you to supplement, based on your other

SNPs, is probably methyl B12, but if you find that it gives you mood

swings, you can balance them by taking some methyl B12 and some

hydroxocobalamin.

Next, you don't have the main MTHFR (methylene tetrahydrofolate

reductase) SNP, which is good, but you do have MTHFR A1298C (+/-).

According to Dr. Yasko, this SNP will slow your rate of production

of tetrahydrobiopterin (BH4), which will impact your production of

dopamine and serotonin, as well as your urea cycle. However, your

COMT and VDR Bsm/Taq will partially compensate for this. You would

probably benefit from taking FolaPro for this, nevertheless.

Looking next at COMT (catechol-O-methyl transferase), you have three

SNPs. COMT V158M (+/-) and COMT H62H (+/-) will tend to slow this

enzyme, while COMT L136L (+/-) will tend to speed it up. Probably

the net effect will be slowing, and this will tend to raise your

dopamine levels.

Your VDR (vitamin D receptor) Bsm/Taq (+/-) will compensate somewhat

for the effects of the COMT SNPs on the dopamine levels, so this

should help to " mellow you out. " High dopamine levels, if present,

can lead to oscillation in dopamine because of a feedback loop, and

this can lead to mood swings, but this doesn't seem to be severe in

your case, because of the combination of SNPs that you have.

Your VDR Fok (+/-) may cause some difficulty in regulating your

blood sugar level. Dr. Yasko recommends her pancreatic support for

this. I don't know what that includes. Maybe somebody else can

tell us. I would guess that there's some chromium in it.

You have MAO A (monoamine oxidase A) R297R (+/-). This enzyme is

used to break down serotonin, and since this SNP slows it down, you

will likely have higher than normal levels of serotonin. This may

affect gut motility and may also tend to produce mood swings.

Your ACE (angiotensin converting enzyme) Del 16 (+/+) will cause the

level of this enzyme to be twice as high as normal, and that will

raise the levels of angiotensin II and aldosterone. The elevated

aldosterone will tend to raise the level of sodium in your blood and

lower potassium. It is possible that your adrenals will become

fatigued from this, in which case your aldosterone will drop, as

will your sodium, and potassium will rise. So it could go either

way, depending on the status of the adrenals. Together with your

MAO A (+/-), this SNP could also produce a low frustration threshold

and increased anxiety. This SNP is associated with greater risk of

heart disease.

O.K., that's what the individual SNPs mean. Now, what about

treatment? The following is based on what I believe Dr. Yasko's

advice would be with your set of SNPs. If you can get advice

directly from her, that would be better, and others may have some

corrections to what I say here.

I think the first thing she would say is to make sure you are not

getting excitotoxins in your diet, such as any foods with MSG or

things like it, or aspartame (Nutrisweet). Then I think she would

recommend limiting your intake of proteins and sulfur-containing

foods and supplements to decrease the flow into the transsulfuration

pathway and also to decrease the ammonia production. Then I think

she would recommend her ammonia support program to decrease your

body's ammonia load, because that is a neurotoxin and you might not

be dealing well with it because of your MTHFR SNP, which slows the

production of BHR and hinders the urea cycle, which normally deals

with ammonia.

Then I think she would advise speeding up the " backdoor "

or " shortcut " pathway to complete the methylation cycle, using

trimethylglycine, phosphatidylcholine and phosphatidylserine.

I think she would advise you to stick with this for a while, maybe a

month, to get the methylation cycle running well. During this time

you could also use the comprehensive gut/bacterial support program.

After about a month, I think she would recommend starting methyl B12

and FolaPro.

She would recommend monitoring your urine amino acids with the

Doctors Data urine amino acids test, and your urine organic acids

with a urinary organic acids test, such as the metabolic panel from

Genova Diagnsostics. When your levels of beta alanine, anserine and

carnosine drop and your methionine and taurine levels are normal on

the amino acids test, and when your FIGLU and methylmalonic acid

levels look good on your organic acids test, then you can add

dimethylglycine to start putting the brakes on the backdoor or

shortcut pathway, and encouraging the long way (the one that uses

B12 and folate).

Since you are female, I think she would recommend the use of CCK

(cholecystokinin) with a source of BH4 (tetrahydrobiopterin), malic

acid, EDTA and horsetail grass to aid in aluminum excretion, since

aluminum toxicity seems to be more of an issue in females.

(Aluminum blocks the other enzyme that converts BH2 to BH4, so that

makes the BH4 situation worse, adding to the problem caused by your

MTHFR SNP.) She says this will trigger detox and make you feel

miserable, but there is no way around having to go through detox.

She says you can control the rate of detox by backing off on these

supplements, and even stopping them for a few days if you need to.

She also has some things she recommends for taking the edge off

detox, They are called " HF, NC, Behavior and Stress. I don't know

what they consist of. Maybe someone else can help here.

Now, how do we put together what we learned from your glutathione

and Detoxigenomic tests with these results? Dr. Yasko doesn't

consider this, so I'm " winging it " a little here. First, as I said

above, we know your glutathione is low from your RBC test, and that

is consistent with having the SNPs in your methylation cycle that

you have. Second, as I said above, because of your CBS and SUOX

SNPs, the direct approaches to building your glutathione are not

likely to work well, and I think you have already found this out the

hard way!

Also, as I said above, I think that taking activated charcoal

capsules could help to compensate both for your problems in detoxing

and for your ammonia issue arising from your CBS SNP. So that

should fit together well. Since you also need to keep your

magnesium up, that may work well for you too, because you might need

more magnesium to avoid constipation from taking the activated

charcoal.

You can see that the COMT SNP that was characterized in your

Detoxigenomic panel came out the same in your Yasko panel, and it's

kind of reassuring that they agree.

Raising your sulfate would probably be a good idea, such as by

taking Epsom salts orally or bathing in them, or both. This will

raise your magnesium, which you likely need, as mentioned already,

and it will also raise your sulfate. This will make up for your

inability to convert sulfite to sulfate as rapidly as normal, and

also should help your detox, because sulfation is one of the main

phase II detox pathways, and raising it might help to partially make

up for your problems with glutathione transferase enzymes, which

will slow the glutathionation phase II detox pathway.

Beyond these things, I think that the other suggestions I made in

connection with discussion of your Detoxigenomic profile still hold.

I would advise you to get wired in with Dr. Yasko's discussion group

at http://www.autismanswer.com in order to get the benefits of the

experience of others and to get answers about details of the

treatments. Also, pages 138 through 142 of the book Genetic Bypass,

which I think you received a copy of with the Yasko test kit, apply

to your set of SNPs. However, I don't think that taking SAMe (which

contains sulfur) would be a good idea, at least early on, because of

your CBS and SUOX SNPs, which are not considered on those pages.

I hope this helps.

Rich

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Posted
Posted

Gotcha, thanks. Was hoping it was cut-and-dried. HAr har.

Adrienne

Re: Re: I GOT MY GENETICS BACK FROM YASKO!!!

RICH, PLEASE HELP ME.

Hi Rich,

I have been living on Autism Answer more and more and this is what I have

discovered. You are right, trying to directly supplement with glutathione is not

going to work for me until I get the ammonia down. For me when I do supplement

with glutathione it increases my ammonia and the yeast love that, most probably

my gut PH is off also and that only encourages the yeast as well. So that

explains my yeast infection when I directly try to supplement with glutathione.

My plan of attack is to do her Ammonia protocoll first and see if I can get that

under control.I only have 8 ounces of protein a day plus on egg. I hope I can

still get away with that!!!

I have also ordered the Kidney and Pancreas support this morning to support

those organs and I guess I am going to bite the bullet and order the RNA Ammonia

(ouch, $110.00) but I know it is crucial for me to ge that ammonia down or I

will never be able to raise my glutathione!

As far as being " mellowed out " I would never describe myself that way! (I wish

I could.) I am hard driving, frustration level is low and anxiety fairly high.

However, this does enable me to be focused and get things done. It will help me

learn this stuff and get well, so I guess something is good about it!

I am already using adrenal support and have been looking into L-tryptophan. DO

YOU THINK THIS IS A GOOD WAY TO GO??? 5HTP has never agreed with me!!!

I cannot tolerate MSG but I do love my life savers and they have nutrisweet in

them. Dang it!!! I know I will have to stop them.

I think and you tell me, should I do one thing at a time?? Start the ammonia

protocoll, with the step one and then wait before I add in the TMG,

phosphatidylcholine and phosphatidylserine??? I have already done the

phosphatidylcholine and it helps me. I aleady have in place the mithochondira

suuport as well and this improved my status. (I JUST DON'T WANT TO MAKE MORE

AMMONIA USING THE IMPROPER THINGS AT THE IMPROPER TIME!!! WHAT DO YOU THINK ????

I am already using methyl B12 and Fola Pro also.

I am doing to start the ammonia protocoll and wait a couple of months, then

run a urine amino acides tests looking for taurine and ammonia. I hope I will be

making some inroads by then.

Getting this BH4 looks complicated and expensive to me. DO YOU KNOW OF A

SOURCE IN THE US OR CAN YOU HELP ME IN THIS AREA????

I have felt miserable all my life, a little detox won't kill me as long as I

know what it is!

Taking Epsom salts orally???? Is their a brand out there for that??? Help???

Rich, thank you for all your help. I feel this is " pay dirt " for me, the root

so to speak of getting my body the best it can be and finally having a life! I

hope to get it accomplished in a year, two at the outside! I know I have mercury

issues as well.

THANK YOU FOR YOUR TIME AND ENERGY,

Janet

in San Diego

rvankonynen <richvank@...> wrote:

Hi, Janet.

I've looked over your Yasko SNP panel results. Here are some

comments. I hope you other " Yasko treatment folks " out there will

chime in and correct any errors you see here.

The first thing to look for is any upregulation in the CBS

(cystathionine beta synthase) enzyme. You have a CBS A360A (+/+)

SNP. This is not the most severe one, but it is homozygous (2

copies), and it does upregulate the CBS enzyme. This causes

homocysteine to be converted to methionine more rapidly than normal,

and decreases the flow within the methylation cycle from

homocysteine to methionine. Dr. Yasko calls this the " leaky

bathtub " situation, and says that it will raise cysteine, which in

turn will decrease the production rate of glutathione and increase

the rate of production of ammonia, taurine, sulfite and hydrogen

sulfide. We know that you tested low for glutathione in your red

blood cells, so this is consistent with that.

The next one to look at is SUOX (sulfite oxidase). Dr. Yasko says

that most of the autistic kids test (+/+) for this, so that's the

normal situation. When there is a (+/-) here, it's unusual, and it

signals a problem with the SUOX enzyme, so that it is less able to

convert sulfite to sulfate, which is the excretion form of sulfur.

You have SUOX S370S (+/-), so this means that you likely have a

problem with handling sulfites.

Taking your CBS and your SUOX together, I think this explains why

you are sensitive to both NAC and whey protein. These will add

sulfur metabolites to your body, and this combination means that you

will have difficulty handling them. I think this means that efforts

to build your glutathione will need to be focused on correcting the

issues in your methylation cycle first, rather than direct

approaches to raising your glutathione. Dr. Yasko recommends

keeping your levels of magnesium and molybdenum up in this

situation. Magnesium is important for the transsulfuration pathway,

and molybdenum is a cofactor for sulfite oxidase. It will also be

important to limit your total protein intake, and avoid foods and

supplements that are high in sulfur. Dr. Yasko's ammonia support

program may help. I'm not sure what this involves (maybe somebody

else can tell us), but taking a couple of activated charcoal

capsules at bedtime is probably part of it. I think the charcoal is

a good idea for you because of your detox SNPs as well, which we

discussed earlier. The charcoal should help you for both these

issues. If you find it constipating, raise your magnesium intake

with it.

Next, note that you don't have the MTR (methionine synthase) SNP,

which is good, and you have only one heterozygous SNP in MTRR

(methionine synthase reductase), which is MTRR A66G (+/-). This one

will slow the recycling of methylcobalamin (methyl B12) somewhat.

The best form of B12 for you to supplement, based on your other

SNPs, is probably methyl B12, but if you find that it gives you mood

swings, you can balance them by taking some methyl B12 and some

hydroxocobalamin.

Next, you don't have the main MTHFR (methylene tetrahydrofolate

reductase) SNP, which is good, but you do have MTHFR A1298C (+/-).

According to Dr. Yasko, this SNP will slow your rate of production

of tetrahydrobiopterin (BH4), which will impact your production of

dopamine and serotonin, as well as your urea cycle. However, your

COMT and VDR Bsm/Taq will partially compensate for this. You would

probably benefit from taking FolaPro for this, nevertheless.

Looking next at COMT (catechol-O-methyl transferase), you have three

SNPs. COMT V158M (+/-) and COMT H62H (+/-) will tend to slow this

enzyme, while COMT L136L (+/-) will tend to speed it up. Probably

the net effect will be slowing, and this will tend to raise your

dopamine levels.

Your VDR (vitamin D receptor) Bsm/Taq (+/-) will compensate somewhat

for the effects of the COMT SNPs on the dopamine levels, so this

should help to " mellow you out. " High dopamine levels, if present,

can lead to oscillation in dopamine because of a feedback loop, and

this can lead to mood swings, but this doesn't seem to be severe in

your case, because of the combination of SNPs that you have.

Your VDR Fok (+/-) may cause some difficulty in regulating your

blood sugar level. Dr. Yasko recommends her pancreatic support for

this. I don't know what that includes. Maybe somebody else can

tell us. I would guess that there's some chromium in it.

You have MAO A (monoamine oxidase A) R297R (+/-). This enzyme is

used to break down serotonin, and since this SNP slows it down, you

will likely have higher than normal levels of serotonin. This may

affect gut motility and may also tend to produce mood swings.

Your ACE (angiotensin converting enzyme) Del 16 (+/+) will cause the

level of this enzyme to be twice as high as normal, and that will

raise the levels of angiotensin II and aldosterone. The elevated

aldosterone will tend to raise the level of sodium in your blood and

lower potassium. It is possible that your adrenals will become

fatigued from this, in which case your aldosterone will drop, as

will your sodium, and potassium will rise. So it could go either

way, depending on the status of the adrenals. Together with your

MAO A (+/-), this SNP could also produce a low frustration threshold

and increased anxiety. This SNP is associated with greater risk of

heart disease.

O.K., that's what the individual SNPs mean. Now, what about

treatment? The following is based on what I believe Dr. Yasko's

advice would be with your set of SNPs. If you can get advice

directly from her, that would be better, and others may have some

corrections to what I say here.

I think the first thing she would say is to make sure you are not

getting excitotoxins in your diet, such as any foods with MSG or

things like it, or aspartame (Nutrisweet). Then I think she would

recommend limiting your intake of proteins and sulfur-containing

foods and supplements to decrease the flow into the transsulfuration

pathway and also to decrease the ammonia production. Then I think

she would recommend her ammonia support program to decrease your

body's ammonia load, because that is a neurotoxin and you might not

be dealing well with it because of your MTHFR SNP, which slows the

production of BHR and hinders the urea cycle, which normally deals

with ammonia.

Then I think she would advise speeding up the " backdoor "

or " shortcut " pathway to complete the methylation cycle, using

trimethylglycine, phosphatidylcholine and phosphatidylserine.

I think she would advise you to stick with this for a while, maybe a

month, to get the methylation cycle running well. During this time

you could also use the comprehensive gut/bacterial support program.

After about a month, I think she would recommend starting methyl B12

and FolaPro.

She would recommend monitoring your urine amino acids with the

Doctors Data urine amino acids test, and your urine organic acids

with a urinary organic acids test, such as the metabolic panel from

Genova Diagnsostics. When your levels of beta alanine, anserine and

carnosine drop and your methionine and taurine levels are normal on

the amino acids test, and when your FIGLU and methylmalonic acid

levels look good on your organic acids test, then you can add

dimethylglycine to start putting the brakes on the backdoor or

shortcut pathway, and encouraging the long way (the one that uses

B12 and folate).

Since you are female, I think she would recommend the use of CCK

(cholecystokinin) with a source of BH4 (tetrahydrobiopterin), malic

acid, EDTA and horsetail grass to aid in aluminum excretion, since

aluminum toxicity seems to be more of an issue in females.

(Aluminum blocks the other enzyme that converts BH2 to BH4, so that

makes the BH4 situation worse, adding to the problem caused by your

MTHFR SNP.) She says this will trigger detox and make you feel

miserable, but there is no way around having to go through detox.

She says you can control the rate of detox by backing off on these

supplements, and even stopping them for a few days if you need to.

She also has some things she recommends for taking the edge off

detox, They are called " HF, NC, Behavior and Stress. I don't know

what they consist of. Maybe someone else can help here.

Now, how do we put together what we learned from your glutathione

and Detoxigenomic tests with these results? Dr. Yasko doesn't

consider this, so I'm " winging it " a little here. First, as I said

above, we know your glutathione is low from your RBC test, and that

is consistent with having the SNPs in your methylation cycle that

you have. Second, as I said above, because of your CBS and SUOX

SNPs, the direct approaches to building your glutathione are not

likely to work well, and I think you have already found this out the

hard way!

Also, as I said above, I think that taking activated charcoal

capsules could help to compensate both for your problems in detoxing

and for your ammonia issue arising from your CBS SNP. So that

should fit together well. Since you also need to keep your

magnesium up, that may work well for you too, because you might need

more magnesium to avoid constipation from taking the activated

charcoal.

You can see that the COMT SNP that was characterized in your

Detoxigenomic panel came out the same in your Yasko panel, and it's

kind of reassuring that they agree.

Raising your sulfate would probably be a good idea, such as by

taking Epsom salts orally or bathing in them, or both. This will

raise your magnesium, which you likely need, as mentioned already,

and it will also raise your sulfate. This will make up for your

inability to convert sulfite to sulfate as rapidly as normal, and

also should help your detox, because sulfation is one of the main

phase II detox pathways, and raising it might help to partially make

up for your problems with glutathione transferase enzymes, which

will slow the glutathionation phase II detox pathway.

Beyond these things, I think that the other suggestions I made in

connection with discussion of your Detoxigenomic profile still hold.

I would advise you to get wired in with Dr. Yasko's discussion group

at http://www.autismanswer.com in order to get the benefits of the

experience of others and to get answers about details of the

treatments. Also, pages 138 through 142 of the book Genetic Bypass,

which I think you received a copy of with the Yasko test kit, apply

to your set of SNPs. However, I don't think that taking SAMe (which

contains sulfur) would be a good idea, at least early on, because of

your CBS and SUOX SNPs, which are not considered on those pages.

I hope this helps.

Rich

>

> I just wanted to let everyone I got my genetics back from the

> lab!!!! I sent in my test on 5/15/06 and I just received it today.

>

> I am going to post the results here in hopes someone can help me

> more to interpet.

>

> So here goes

>

> Gene Name Variation Result Call

>

> ACE Del 16 +/+ Deletion

> CBS A360A +/+ T

> CBS Y233Y (C699T) -/- C

> COMT H62H +/- Hetero

> COMT V158M +/- Hetero

> COMT L136L +/- Hetero

> MAO A R297R +/- Hetero

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- Hetero

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L -/- C

> MTRR K350A -/- A

> MTRR 415T -/- C

> MTRR 919G (A66G) +/- Hetero

> NOS D298E -/- G

> SUOX S370S +/- Hetero

> VDR BSM/TAG +/- Hetero

> VDR Fok +/- Hetero

> VDR Taq +/- Hetero

>

> Whoops, forgot one,

>

> MTRR S257T -/- T

>

> Please let me know what you think,

>

> As always, thank you all for your help,

>

> Janet

> in San Diego

>

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Posted
Posted

Just a note, don't forget the SUOX and the NOS SNP's will also need

the ammonia protocol. Even if ammonia and taurine are not high on

an Amino Acids test, when you supplement the methylation pathway

properly you might very well see ammonia/taurine rise if you have

one of the three mutations=NOS CBS or SUOX.

> >

> > I just wanted to let everyone I got my genetics back from the

> > lab!!!! I sent in my test on 5/15/06 and I just received it

today.

> >

> > I am going to post the results here in hopes someone can help me

> > more to interpet.

> >

> > So here goes

> >

> > Gene Name Variation Result Call

> >

> > ACE Del 16 +/+ Deletion

> > CBS A360A +/+ T

> > CBS Y233Y (C699T) -/- C

> > COMT H62H +/- Hetero

> > COMT V158M +/- Hetero

> > COMT L136L +/- Hetero

> > MAO A R297R +/- Hetero

> > MTHFR A222V (C677T) -/- C

> > MTHFR E429A (A1298C) +/- Hetero

> > MTR A919G (A2756G) -/- A

> > MTRR H595Y -/- C

> > MTRR S175L -/- C

> > MTRR K350A -/- A

> > MTRR 415T -/- C

> > MTRR 919G (A66G) +/- Hetero

> > NOS D298E -/- G

> > SUOX S370S +/- Hetero

> > VDR BSM/TAG +/- Hetero

> > VDR Fok +/- Hetero

> > VDR Taq +/- Hetero

> >

> > Whoops, forgot one,

> >

> > MTRR S257T -/- T

> >

> > Please let me know what you think,

> >

> > As always, thank you all for your help,

> >

> > Janet

> > in San Diego

> >

>

>

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Posted
Posted

> CBS:

> Both the CBS C699T as well as the CBS A360A lead to increased

activity of

> the CBS enzyme. The C699T is the stronger of the two up regulations.

Overall

> there are four possible CBS up regulations that have been

characterized at

> this time.

According to the latest review article on CBS, the action of these

polymorphisms enzyme activity is " not determined " yet. See:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & dop\

t=AbstractPlus & list_uids=16601863 & query_hl=39 & itool=pubmed_docsum

<http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & do\

pt=AbstractPlus & list_uids=16601863 & query_hl=39 & itool=pubmed_docsum>

Basically, a study from 2000 found an association between lowered

homocysteine and those polymorphisms, and thus theorized that those

polymorphisms increased CBS enzyme activity. However, later studies

have not confirmed that lowered homocysteine levels are associated

with those polymorphisms:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & dop\

t=AbstractPlus & list_uids=10833331 & query_hl=21 & itool=pubmed_docsum

<http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & do\

pt=AbstractPlus & list_uids=10833331 & query_hl=21 & itool=pubmed_docsum>

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & dop\

t=AbstractPlus & list_uids=12529702 & query_hl=18 & itool=pubmed_docsum

<http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & do\

pt=AbstractPlus & list_uids=12529702 & query_hl=18 & itool=pubmed_docsum>

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & dop\

t=AbstractPlus & list_uids=15866085 & query_hl=21 & itool=pubmed_docsum

<http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & do\

pt=AbstractPlus & list_uids=15866085 & query_hl=21 & itool=pubmed_docsum>

The first study is interesting, because what they did find, was that

2 of the polymorphisms influenced the lowering effects of folic acid on

homocysteine. Since the CBS and folic acid effects on homocysteine are

2 different pathways, they theorized that the 2 pathways influence

each other some way. I.e. could excess folic acid increase CBS

activity in

some of the polymorphisms? This is still total speculation, though.

Btw, one of these polymorphisms that was more sensitive to folic

acid, was not one of the ones that was found in the 2000 study to be

associated with lowered homocysteine, i.e. 699C was sensitive to

folic acid, while 699T was found in the 2000 study to be associated

with lowered homocysteine. Go figure. In any event, none of these

others studies showed any association with homocysteine levels and

any of these polymorphisms.

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