Re: RICH and all: Yasko test results - HELP

[Guest guest]

HI ,

I can help some, I am still learning also. Frist off, go to the Genetic By

Pass book. That will help some. When you see +/+ it means you are homozygous

(youhave 2 copies of the mutations one from each parent.) When you see +/- you

have one copy of the mutation. -/- means no mutation. You do have the CBS up

regulation. Go to autism answer and look at Step one. You will also need to look

at the ammonia protocoll as well. You also have a mutation in SUOX which adds

to the problem. Read the basics at Amy's site. This is a learning curve. WE all

need to do our part and learn so we can help each other. I also have these

mutations!

I am sure Rich can help more and also address the other mutations.

Hang in there!

Janet

rosebud1082001 <ganesh1008@...> wrote:

Hi Rich and all,

I just received my results from the Yasko SNP testing. I guess I could

say I'm a tad confused. Honestly - overwhelmed. I'm hoping for a

little kind help getting a grip on this. Any information would be so

greatly appreciated.

ACE Del16 -/- NO DELETION

CBS A360A +/+ T

CBS Y233y (C699T) -/- C

COMT H62H +/+ T

COMT V158M +/+ A

COMT L136L -/- C

MAO A R297R +/+ T

MTHFR A222V (C677T) -/- C

MTHFR E429A (A1298C) +/- HETERO

MTR A919G (A2756G) -/- A

MTRR H595Y -/- C

MTRR S175L +/- HETERO

MTRR K350A -/- A

MTRR R415T -/- C

MTRR S257T -/- T

MTRR A919G (A66G) +/+ G

NOS D298E -/- G

SUOX S370S +/+ C

VDR Bsm/Taq +/+ G

VDR Fok +/- Hetero

VDR Taq +/+ T

Thank you, thank you to any smart person who can help!

Michele G.

PS I sent this test in on May 26.

[Guest guest]

Hi, Michele.

Thanks for posting your Yasko panel results. I've looked them over,

and here are some comments. As before, I hope you others who are

familiar with the Yasko treatment program will correct any errors

you see.

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 cystathionine 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. I think you have reported low methionine, low glutathione

and high ammonia in the past, so this SNP would perhaps explain

those results.

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, and your genes are normal for this one. That's

good, and it says that though you may be making more sulfite than

normal, the enzyme to convert it into sulfate is normal. I note

that you reported in the past not being able to tolerate

molybdenum. Molybdenum is a cofactor for the SUOX enzyme, and I

don't have an explanation for why you don't tolerate it well.

I suspect that your homozygous SNP in CBS explains why

you are sensitive to glutathione injections. These would add

sulfur metabolites to your body, and the combination of this SNP,

causing more sulfur metabolites to enter the transsulfuration

pathway, together with the addend sulfur in the glutathione

injections, may be too much for your SUOX to handle, even though it

is normal, and this could cuase a rise in sulfite, which could

produce neurological symptoms. 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. I realize that

you are sensitive to molybdenum, so I don't know what to say about

that. Maybe you could take a smaller amount. 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. This includes limiting the protein in the diet,

and taking yucca, activated charcoal, and the ammonia RNA product

she and Garry Gordon sell.

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

which is good, but you do have MTRR A66G (+/+) and MTRR S175L (+/-)

The first one will slow the recycling of methylcobalamin (methyl

B12). The second one will partially mitigate that, but you will

still need to supplement B12. Looking at pages 207-210 in the

Genetic ByPass book, which I think you have, because of your SNPs in

COMT, discussed below, and your SNP in VDR Bsm/Taq, Dr. Yasko would

recommend hyroxocobalamin as the B12 supplement in your case.

There is other guidance on those pages for supplements that are

helpful with your combination of SNPs.

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 MAO A SNPs will probably more than compensate for a lower

rate of production of dopamine and serotonin. You would

probably benefit from taking FolaPro for this MTHFR SNP,

nevertheless.

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

homozygous SNPs: COMT V158M (+/+) and COMT H62H (+/+). They both

tend to slow this enzyme, and this will tend to raise your

dopamine levels, and perhaps give you mood swings.

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 counter the mood swings, but you do have a pretty

slow COMT reaction. High dopamine levels, if present, can lead to

oscillation in dopamine because of a feedback loop, and this can

lead to mood swings.

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

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

this. 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.

You don't have the ACE (angiotensin converting enzyme) deletion

SNP, or the NOS (nitric oxide synthase) SNP, and that's good.

I think that covers your SNPs. Here's what I think Dr. Yasko would

suggest for treatment. 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 BH4 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 hydroxo 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 Diagnostics. (I think she offers these tests on her site,

http://testing4health.com.) 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 this together with what else we know about your

case? First, as I said above, your glutathione tested low some time

ago, and that is consistent with having the SNPs in your methylation

cycle that you have. Second, as I said above, because of your CBS

SNP, the direct approaches to building your glutathione are not

likely to work well, and I think you have found this to be true.

I don't know what the SNPs in your detox enzymes might be, but given

your double homozygous SNPs in COMT, if you happen to also have the

SNP in CYP1B1, this could have made for some difficulties in

metabolizing estradiol in the past, and that could have contributed

to a state of oxidative stress and depletion of glutathione.

I would advise you, if you haven't already, to join 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, I recommentd that you read pages

207 to 210 in Genetic ByPass.

I hope this helps.

Rich

>

> Hi Rich and all,

> I just received my results from the Yasko SNP testing. I guess I

could

> say I'm a tad confused. Honestly - overwhelmed. I'm hoping for a

> little kind help getting a grip on this. Any information would be

so

> greatly appreciated.

>

> ACE Del16 -/- NO DELETION

> CBS A360A +/+ T

> CBS Y233y (C699T) -/- C

> COMT H62H +/+ T

> COMT V158M +/+ A

> COMT L136L -/- C

> MAO A R297R +/+ T

> MTHFR A222V (C677T) -/- C

> MTHFR E429A (A1298C) +/- HETERO

> MTR A919G (A2756G) -/- A

> MTRR H595Y -/- C

> MTRR S175L +/- HETERO

> MTRR K350A -/- A

> MTRR R415T -/- C

> MTRR S257T -/- T

> MTRR A919G (A66G) +/+ G

> NOS D298E -/- G

> SUOX S370S +/+ C

> VDR Bsm/Taq +/+ G

> VDR Fok +/- Hetero

> VDR Taq +/+ T

>

> Thank you, thank you to any smart person who can help!

> Michele G.

>

> PS I sent this test in on May 26.

>