Re: Re: Test Results back from Genovations. BAD NEWS!! HELP! ! Ricfh//All

[Guest guest]

What is the definition of a polymporphism - a genetic variant that is relatively

commonly found in the population - everybody has them, I would be surprised if

anybody, sick or well, came back with no polymorphisms present. Unfortunately I

dont have my polymorphism test with me but I had a null gene as well - probably

the same one that you do. That is another commonly found variant- if you will

look up the information on the genovations site it will probably ease your mind

greatly. Its NOT a huge deal.

You're not even homozygous for that CYP gene - that means that half of it is

okay. None of these mean you CAN'T detoxify x or y or z - they mean your ability

to do so is impaired somewhat; ie that the SOD enzyme is not working as

effectively in your body as in others. It doesnt mean that its not working - its

just not working as strongly. Given your problem that shouldn't be a surprise at

all.

I think physicians like Cheney are really looking for detox or immune charts

that are just filled with homozygous polymorphisms. I dont think yours was.

jenbooks13@...> wrote:

I feel for you. I may freak out when I get my testing4health

back...but think of it this way: knowledge is power. You have been

carrying these genes all your life. They have not killed you. In fact,

you got some genes for intelligence and curiosity that allowed you to

come on to this list, learn things, and take the initiative to get

tested. Life is on your side, in this way. And yes, you've got Rich.

As someone on this list emailed me recently, he's been sent from God

to the CFS community. It might be true!

>

> HI Everytone.

>

> Well I got the shock of my life today when the results of my test

> came back. The worst thing is the that their is " no gene present on

> either chromosome for GSTM1 " !!!! and a + - on GSTP1. It is called

> null allele. Rich can you give me help with this??? Do I understand

> this correctly???

>

> In effect they are saying their is no gene present on either

> chromosome to make glutathione. I think! IS THAT RIGHT??? So I can't

> detox! They obviusly suggest raising glutathione!

>

> I am good with that, except I got that terrible reaction with Whey

> protien Isolate and that terrrible yeast infection that cost me at

> least a $1,000. to clear and I am still working on that. I waiting

> to try again the True Whey by Source Naturals. CAN ANYONE GIVE ME

> HELP WITH THIS???? I CANNOT TOLERATE NAC!!!

>

> That is the worst of it, but I also have problem with CYP1BI and

> this detoxs car exhaust, cigurette smoke and charbroiled foods, it

> also detoxifies estrogen! I just came back with a Class 2, pap, been

> on low dose HRT for one year. I have to go to biodential hormones,

> looks like to me. CAN ANYONE GIVE ME HELP HERE???? Am I thinking

> corectly on this???

>

> I have another problem with CYP2C9! This detoxs alot of drugs! No

> wonder anesthia floors me!!! " prevents the normal metabolism of some

> drugs " . I have a very long list. CAN ANYONE HELP ME HERE???? Rich is

> their a way to get around this????

>

> My last problem is another gene CYP2C19 which is also involved with

> detoxing more drugs. I have another very long list! " Risk of

> phenytoin toxicity " . CAN ANYONE HELP ME HERE??? Is their a way to

> get around this???

>

> Lastly, it says, " superovide dismutase is the primary anti-oxidant

> enzyme with the mitochondria of cells. SOD2 converts reactive oxygen

> species into less reactive hydrogen peroxide. Polymorphisms in SOD2

> + and ++ are associated with reduced SOD activity and thus higher

> risk of oxidative stress and related conditions. This genotype has

> specifically been associated with cardiomyopathy " ! THIS SOUNDS REAL

> FAMILIAR FROM THIS LIST!!! DO I NEED TO TAKE SOD??? CAN ANYONE HELP

> ME HERE??? Rich is their a way to get around this???

>

> I feel like I faced my mortality today. One of things I do have

> going is I can supplement glutathione, but it has been a very rough

> day!!

>

> Any help would be so very much appreciated.

>

> Janet

> in San Diego

>

---------------------------------

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[Guest guest]

HI Rich,

Thank you so much for taking the time and energy to get back to me. I am still

learning so clarity I needed. You are a blessing!

About glutathione, I have gone back to the sublingual glutathione about

200-300 mgs every day. I have the liposomal glutathione in my fridge and I am so

tempted to try maybe a teaspoon a day and see how that goes. Yeast is being

controlled (gone) by Candex and I take some Lactoferrin every day. DO YOU THINK

THAT WOULD BE OK.???

I do try to stay away from smoke, I will be even more careful now and since I

live about 10 miles from the beach, I get good clean arir. I am grateful for

that.

My sister has aleady had breast cancer (one breast was showing the problem and

the other had calcim deposits in it), so she has had both removed. This happened

pretty quicly after she started HRT. She does smoke/drink and I do neither. I

have only been on the HRT for one year, I resisted for three years before that,

but I just could not take it any longer. This morning I ordered Indol-3-carbinol

which is showing promise against this problem. I have not had a mammogram since

I started HRT, so I know that is on my " to do list NOW! "

The only drup that worries me a little is Neurontin I was taking for my

neuropathy, but I stopped that when even a dose as low as 200 mg, made me dizzy!

I am still trying to address that problem. (Exercise makes that better.)

Yesterday in the doc's office he had a " Aware Magazine "

on FM and it it they are using Lyrica for FM and it also works for neuropathy.

He gave me a RX for that in a low dose.

I was at the dentist and had quite a reaction to epinephrine. I know now why!

I do notice that I don't have a problem with mood swings, but my patience

level could be better.. I also tend to be more of the loner type.

I do eat some organic foods, but I will eat more, now that I know.

SOD does come in a sublingual. WOULD THAT HELP ME??? I do take OPC's.and I

will add in the VIT C. I have shown high mercury before, so I know that is one

of my toxins.

I was wondering if I could do a liver flush now and be safe???? Biotics have a

good program and the doc also mentioned it. WHAT DO YOU THINK??? Do I have to

know what the toxins are?? Or can I go with a general cleanse and get the

process going??? I do know in the past I have used sauna's with great success!

Even was able to go back on the treadmill, so I think my toxic body needs relief

as soon as possible. I would not even attempt to approach the metals with

chelation at this point.

You hit the nail on the head about heavy periods! Started when I was 9 years

old, very heavy and painful!! Went the full 7 days. No endometriosis.

For me, I want to detox as quickly and safely as I can. I think this is alot

of my problem and get that glutathione up. Amy's test is really holding things

up for me. I sent my test in on 5/15/06 and I still don't even have my labs

back. When I called the office they told me 8 weeks is about right on time My

biggest worry along with the rest of this is that estrogen problem. I hope I

have managed to avoid a breast cancer problem. I don't think I am up for that.

Again thank you so much for your help. I have been sick for 25 years. This

list has helped me more than anything. I am very grateful.

Janet

in San Diego.

rvankonynen <richvank@...> wrote:

Hi, Janet.

Thanks for faxing me your Detoxigenomic profile and RBC total

glutathione results, as well as posting some of the results on the

list.

I'm sorry these results were upsetting. It can be chagrining to

learn that one's genes have some aspects that one would not have

chosen, realizing that one has them for a lifetime. However, there

are some good aspects to it. One is that now you know the facts

about them, so that you can operate on the basis of hard data rather

than speculation. Another is that even though we can't change our

genes, there are ways of compensating for some of the less desirable

issues that arise because of genetic variations.

I can offer some specific comments:

First, your red blood cell total glutathione level is below the

normal range, 562 compared to 568-1048 micromolar in concentration.

This is very common in CFS, and puts you in one of the main

subsets. Fortunately there are things that can be done to restore

the glutathione level to normal, and when that occurs, you should

experience improvement in many of your symptoms. I'll comment on

this more below, but I think it would be best to wait until your

Yasko panel results come back before deciding on what approach to

use to raise your glutathione. I recall that you don't respond well

to NAC, and also had considerable difficulty with a whey protein

isolate. I suspect that this means that you have some genetic

issues in the enzymes affecting your methylation cycle, and it may

be necessary to compensate for them in order to raise your

glutathione. The Yasko panel will give information that will help

decide how to do that.

So now let's start at the top of your Detoxigenomic profile results.

In Phase I detox, your profile shows SNPs in CYP1B1, CYP2C9, and

CYP2C19, three out of the eight that are characterized in this

test. Note first that you have normal genes for CYP2D6 and CYP3A4.

That's good, because those enzymes detox most pharmaceuticals. So

should you need to take some drugs for some reason, most of them

will be handled normally in Phase I.

Now, what about CYP1B1? As it says on the report, this SNP is an

upregulation. That means that the enzyme will work faster than

normal when it processes its substrates. As it also says, this

enzyme is responsible for detoxing polycyclic aromatic hydrocarbons

(PAHs) which are present in all types of smoke (tobacco smoke,

engine exhaust, and barbecuing, for example). It is also

responsible for one of the reactions with the estrogens, which

converts them to 5-hydroxy estrogens. As you may know, the way the

detox system typically is supposed to work, Phase I converts

substances to intermediates, and then Phase II follows to convert

them to forms that are very water soluble and easy to excrete, so

that they can be removed from the body. Often the intermediate is

more toxic than the original substance. If Phase I is faster than

normal, and Phase II is slower than normal, then the intermediates

hang around longer and build up to higher concentrations than

normal. A person who has this situation has been termed

a " pathological detoxifier. " In your case, as I will discuss below,

you do have some issues in Phase II that could slow the reactions

down there, so I think you would fit into this category. In the

case of the estrogen aspect of the CYP1B1 function, the 5-hydroxy

estrogens (also called catechol estrogens) have the property that if

they aren't processed by Phase II, they can auto-oxidize to form

what are called semiquinones and quinones. These can oscillate back

and forth from one to the other, and when they do, they generate

oxidizing free radicals, which can make demands on the glutathione

supply and contribute to oxidative stress. This may be part of the

reason for your glutathione depletion.

So what can you do about this one? Well, the smoke part is pretty

obvious. You can avoid inhaling smoke of all kinds, though air

pollution may be hard to avoid. If it's possible to put a good air

filter in your living space, I think that would be a good idea.

Charcoal filters are very good for removing the substances that you

are sensitive to. Of course, they have to be replaced fairly often,

which is a nuisance and costs money. My mother-in-law has Orreck

electrostatic air fllters in her house, and they include a small

charcoal filter. I think they do a pretty good job.

What about the estrogen part? I know that you are post menopausal,

and that you have been on low-dose hormone replacement therapy to

avoid the unfun stuff that you had to endure for quite a while after

menopause. You mentioned going to bioidentical hormones. I think

that's a good idea for other reasons, but it won't eliminate the

production of 5-hydroxy estrogens by your CYP1B1. The fact that you

use low doses of the hormones should help. It's a tough choice to

make, whether to stay on HRT or not. One thing I should mention is

that there is a somewhat greater risk for certain cancers from the

CYP1B1 SNP that you have, because of the elevated amounts of 5-

hydroxy estrogens produced by it, and the resulting oxidizing free

radicals. Getting your glutathione level restored and controlling

the oxidative stress should help reduce that risk.

O.K., now CYP2C9: This SNP is a down-regulator, and this enzyme

detoxes quite a few drugs, a list of which you have received. The

fact that it's a downregulator means that you are not a pathological

detoxifier with respect to these drugs, but that if you were given a

standard dose of one of these drugs, you would get " more bang for

your buck " than people without this SNP. The drug would stay in

your body longer, and would rise to higher concentrations. Thus, a

standard dose of one of these drugs might be toxic to you, while it

would not be for others. One solution is to avoid taking any of the

drugs on the CYP2C9 list. If you really need to take one of them

for some reason, then you should ask your doctor to prescribe a

smaller dose than the standard dose for that drug.

For CYP2C19, the same advice applies, for the list of drugs that it

detoxifies. Don't worry about that comment " Risk of phenytoin

toxicity. " That would only apply if you were taking phenytoin

(Dilantin), which is a drug for seizures. If you aren't taking it,

then you won't experience toxicity from it.

Moving on to Phase II, note that all the SNPs you have here are

heterozygous, except for the missing GSTM1. In other words, you

have one normal copy of each of these affected genes. First, you

have a COMT V158M (+/-). Catechol-O-methyl transferase is an enzyme

that forms part of the breakdown pathway for the catecholamines:

dopamine, norepinephrine, and epinephrine. It also performs Phase

II methylation on the 5-hydroxy estrogens, mentioned above. This

SNP causes a downregulation of the activity of this enzyme, and that

means that you probably have somewhat elevated levels of these

substances. Elevated dopamine can cause mood swings, because the

dopamine level tends to oscillate as a result of a feedback control

loop. COMT uses methyl groups that it obtains from SAMe (S-

adenosylmethionine), which is in the methylation cycle. We will

have to wait until your Yasko panel results come back to see whether

your methylation cycle has issues that would further interfere with

the breakdown of these substances. One thing you can do is to avoid

taking supplemental phenylalanine or tyrosine, because they are the

precursors for the catecholamines, and taking them will tend to

raise these substances to even higher concentrations.

Next, you have two SNPs in your NAT2 enzymes (NAT2 I144T +/- and

NAT2 R197Q +/-), both in the direction of making it operate more

slowly. This will slow down the detox of certain toxins, among them

the aromatic amines that are rapidly processed by CYP1B1 above. So

I think that this would make you even more sensitive to smokes, and

the obvious response is, again, to avoid inhaling smoke of all

types.

Now the glutathione transferase enzymes. Your GSTM1, which would be

located at chromosome 1p13.3, is missing on both your chromosomes.

This is actually not so unusual. Something like 2/3 of Americans

don't have a gene for this enzyme, if what I'm reading from Sciona

is correct, based on 2002 U.S. census data. GSTM1, when present, is

found in the liver and kidneys, and it's also in the blood serum.

It specializes in conjugating organic toxins to glutathione

molecules so they can be water-soluble and more easily disposed of.

So this suggests that your body's handling of organic toxins, such

as solvents and pesticides, for examples, might be slower than

normal. You also have a polymorphism in one copy of the other GST

that they characterize: GSTP1 I105V (+/-). This enzyme is found in

the brain and the skin, as well as in the red blood cells, and it

seems to specialize in conjugating heavy metals to glutathione.

Having this SNP means that your body's ability to dispose of heavy

metals, such as mercury, would be slower than normal. It should be

noted that there are other glutathione transferase enzymes that are

not characterized in this profile, that there is overlap between

what the various ones do, so that they can " stand in " for each other

to some degree, and that glutathione is actually able to conjugate

to toxins without the help of transferase enzymes, just more

slowly. So some smart responses to having these polymorphisms would

be to build the glutathione back up and to avoid toxins such as

heavy metals, organic solvents, and pesticides. Having clean air in

your living space, using a water filter that has a charcoal block in

it, and eating organic foods would be good ideas. Try not to

breathe fumes of various sorts, such as from painting or highway

repair. If you have to be in an environment like that, wear a

respirator that has an activated charcoal filter in it.

Finally, you have an SOD2 A16V (+/-). Superoxide dismutases are

enzymes that convert superoxide, which is an oxidizing free radical,

into hydrogen peroxide. SOD2 is the mitochondrial form of SOD,

which contains manganese. It deals with the superoxide free

radicals that are produced naturally by oxidative metabolism in the

mitochondria. This SNP causes the reaction to run slower, so that

the superoxide radicals would be able to react with other molecules

in the mitochondria, such as the lipid membrane molecules, and

produce damage. This constitutes oxidative stress. The hydrogen

peroxide is normally dealt with by catalase or by glutathione

peroxidase, which makes use of glutathione and selenium. If the

peroxide reacts with a lipid before it can be taken out, then the

glutathione transferases deal with the lipid peroxide, again using

glutathione. As you know you have some polymorphisms in your

glutathione transferases, and you are currently depleted in

glutathione, so it's likely that your body is not currently able to

deal properly with hydrogen peroxide, either, and this may exert a

back pressure on the superoxide dismutase reaction, making it run

even more slowly, You definitely have a recipe here for oxidative

stress, and that corresponds to the fact that your glutathione is

depleted, since it is normally the basis for the whole antioxidant

system, and it has been overwhelmed.

What can you do about the SOD2 SNP? I know that there are some SOD

supplements on the market, but I'm not sure they will make it from

the digestive system into the mitochondria of the cells. Maybe if

they were in a two-layered liposome they would have a chance, but

I'm not sure if anything like that is commercially available. You

can also take bioflavonoids, such as OPCs (oligomeric

proanthocyanidins) as in grape seed extract or marine pine bark

(Pycnogenol). Or you could take vitamin C, at doses near bowel

tolerance. That might also help to recycle the glutathione that you

do have, even though it's low. After your glutathione is back up,

once we see what the Yasko panel says and can deal with that, then

you could add vitamin E. After mercury is cleared, you could add

alpha lipoic acid.

Beyond these things, there is the issue of what toxins may have

built up in your body, and what to do about them. Since your

glutathione is low, and probably has been so for a while, and since

you have the SNPS discussed above, I think it's likely that you have

some significant body burdens of various toxins. If possible, I

think it's a good idea to try to identify what's there. For heavy

metals, I would suggest getting the DMSA-provoked 6-hour urine

collection test for metals from Doctors Data Lab. However, I would

not recommend running that test until you get your glutathione back

up. Marcia found out about that the hard way, unfortunately, back

in January.

For other toxins, I would suggest getting screening tests from

http://www.nmslab.com in Pennsylvania. Which tests would depend on

what exposures you think you have had. They have screening tests

for pesticides and hydrocarbons, in addition to lots of specific

tests.

When you know what toxins you have stored up, you can get more

specific about detoxing them. Kurt described several things that

can be used. If you can tolerate sauna, that's a possibility for

some. Several substances will bind various types of toxins if they

are cycling through the gut. Chelation can be used for heavy

metals. Amy Yasko finds that a lot of detoxing happens

automatically once the methylation cycle is restored to proper

function and bacteria and viruses are dealt with.

Well, anyway, please don't despair. Having these genetic data in

hand is progress, even though the results aren't everything you

might have wished them to be. The point is that you are on a path

toward doing something about these toxins, correcting your oxidative

stress, and getting your glutathione back up where it should be,

with all the benefits that can bring. Hang in there!

Rich

P.S. If you don't mind commenting on this, I would be interested to

know about your menstrual history. For example, did you have heavy

periods? Was there anything irregular about your cycles? Did you

have endometriosis? The reason I'm asking is because of your CYP1B1

SNP. I'm wondering if that can have such effects.

Also, as you probably know, CFS occurs dominantly in women, with a

ratio between 2 to 1 and 4 to 1, depending on which study you look

at. Nobody has ever explained this. An obvious suspect is

something to do with estrogen. If the production of estrogen in

higher quantities, as is found in women, somehow places an

additional demand on glutathione, that would fit with my glutathione

depletion model and tend to push more women than men into

glutathione depletion and hence, into CFS. One possibility for this

is the CYP1B1 SNP, for the reasons described above. I have

Detoxigenomic reports in front of me from four women who have CFS.

All four have the CYP1B1 SNP. Hmmmmmmmm.

>

> HI Everytone.

>

> Well I got the shock of my life today when the results of my test

> came back. The worst thing is the that their is " no gene present

on

> either chromosome for GSTM1 " !!!! and a + - on GSTP1. It is called

> null allele. Rich can you give me help with this??? Do I

understand

> this correctly???

>

> In effect they are saying their is no gene present on either

> chromosome to make glutathione. I think! IS THAT RIGHT??? So I

can't

> detox! They obviusly suggest raising glutathione!

>

> I am good with that, except I got that terrible reaction with Whey

> protien Isolate and that terrrible yeast infection that cost me at

> least a $1,000. to clear and I am still working on that. I waiting

> to try again the True Whey by Source Naturals. CAN ANYONE GIVE ME

> HELP WITH THIS???? I CANNOT TOLERATE NAC!!!

>

> That is the worst of it, but I also have problem with CYP1BI and

> this detoxs car exhaust, cigurette smoke and charbroiled foods, it

> also detoxifies estrogen! I just came back with a Class 2, pap,

been

> on low dose HRT for one year. I have to go to biodential hormones,

> looks like to me. CAN ANYONE GIVE ME HELP HERE???? Am I thinking

> corectly on this???

>

> I have another problem with CYP2C9! This detoxs alot of drugs! No

> wonder anesthia floors me!!! " prevents the normal metabolism of

some

> drugs " . I have a very long list. CAN ANYONE HELP ME HERE???? Rich

is

> their a way to get around this????

>

> My last problem is another gene CYP2C19 which is also involved

with

> detoxing more drugs. I have another very long list! " Risk of

> phenytoin toxicity " . CAN ANYONE HELP ME HERE??? Is their a way to

> get around this???

>

> Lastly, it says, " superovide dismutase is the primary anti-oxidant

> enzyme with the mitochondria of cells. SOD2 converts reactive

oxygen

> species into less reactive hydrogen peroxide. Polymorphisms in

SOD2

> + and ++ are associated with reduced SOD activity and thus higher

> risk of oxidative stress and related conditions. This genotype has

> specifically been associated with cardiomyopathy " ! THIS SOUNDS

REAL

> FAMILIAR FROM THIS LIST!!! DO I NEED TO TAKE SOD??? CAN ANYONE

HELP

> ME HERE??? Rich is their a way to get around this???

>

> I feel like I faced my mortality today. One of things I do have

> going is I can supplement glutathione, but it has been a very

rough

> day!!

>

> Any help would be so very much appreciated.

>

> Janet

> in San Diego

>

[Guest guest]

I did this last year . . . . one of the best investments I have made. Where have

you guys been??

Sue T

jill1313 <jenbooks13@...> wrote:

Holy shit. I don't mean to swear but this is an amazing post. I

have printed it out. Unbelievable what you are offering this list.

I guess I have to get detoxigenomics test somehow myself. I wonder if

I have that polymorphism too, in regards to estrogen, as irregular

periods and estrogen dominance run on my mother's side. Interesting.

> >

> > HI Everytone.

> >

> > Well I got the shock of my life today when the results of my test

> > came back. The worst thing is the that their is " no gene present

> on

> > either chromosome for GSTM1 " !!!! and a + - on GSTP1. It is called

> > null allele. Rich can you give me help with this??? Do I

> understand

> > this correctly???

> >

> > In effect they are saying their is no gene present on either

> > chromosome to make glutathione. I think! IS THAT RIGHT??? So I

> can't

> > detox! They obviusly suggest raising glutathione!

> >

> > I am good with that, except I got that terrible reaction with Whey

> > protien Isolate and that terrrible yeast infection that cost me at

> > least a $1,000. to clear and I am still working on that. I waiting

> > to try again the True Whey by Source Naturals. CAN ANYONE GIVE ME

> > HELP WITH THIS???? I CANNOT TOLERATE NAC!!!

> >

> > That is the worst of it, but I also have problem with CYP1BI and

> > this detoxs car exhaust, cigurette smoke and charbroiled foods, it

> > also detoxifies estrogen! I just came back with a Class 2, pap,

> been

> > on low dose HRT for one year. I have to go to biodential hormones,

> > looks like to me. CAN ANYONE GIVE ME HELP HERE???? Am I thinking

> > corectly on this???

> >

> > I have another problem with CYP2C9! This detoxs alot of drugs! No

> > wonder anesthia floors me!!! " prevents the normal metabolism of

> some

> > drugs " . I have a very long list. CAN ANYONE HELP ME HERE???? Rich

> is

> > their a way to get around this????

> >

> > My last problem is another gene CYP2C19 which is also involved

> with

> > detoxing more drugs. I have another very long list! " Risk of

> > phenytoin toxicity " . CAN ANYONE HELP ME HERE??? Is their a way to

> > get around this???

> >

> > Lastly, it says, " superovide dismutase is the primary anti-oxidant

> > enzyme with the mitochondria of cells. SOD2 converts reactive

> oxygen

> > species into less reactive hydrogen peroxide. Polymorphisms in

> SOD2

> > + and ++ are associated with reduced SOD activity and thus higher

> > risk of oxidative stress and related conditions. This genotype has

> > specifically been associated with cardiomyopathy " ! THIS SOUNDS

> REAL

> > FAMILIAR FROM THIS LIST!!! DO I NEED TO TAKE SOD??? CAN ANYONE

> HELP

> > ME HERE??? Rich is their a way to get around this???

> >

> > I feel like I faced my mortality today. One of things I do have

> > going is I can supplement glutathione, but it has been a very

> rough

> > day!!

> >

> > Any help would be so very much appreciated.

> >

> > Janet

> > in San Diego

> >

>

[Guest guest]

Sorry . . . I was being light hearted. Didn't know I was responding to such an

angry person. I tend to get confused when people don't leave their name at an

end of a post.

Money is always an issue with me in testing . . . I just had to accept the

fact that I will be deeply in debt.

Please relax . . . you will get there . . . I am in great hands with the docs

I am using(FINALLY).

Best wishes, Sue T

jill1313 <jenbooks13@...> wrote:

Where have we been?

Where have *you* been. New York State does not ALLOW Genovations

testing. I have to travel and probably have an expensive initial

consult with a non-New York doctor who will have his or her own ideas

about how to treat me, simply in order to get a Genovations test. I

have to figure out a better way to do it as money is tight.

As for testing4health, I spent the last 2.5 years completing a huge

book project that will be published next spring. I put off any major

shifts in my approach to my health until it was finished. I think I

have mentioned this in the past, not that I expect anyone to really

notice.

That's where I've been.

Also, until Rich really had all this stuff thoroughly absorbed and

understood, there was nobody to interpret testing4health results. You

have to wait even more than the 2 months for the teset results, to get

Dr Yasko to interpret and its very expensive. And she is mainly

focussed on the autistic kids.

Everybody juggles different stuff in their life, and when windows of

opportunity arrive to get these tests, and there is not only the

financial ability, but the time to address whatever they show, well,

that's when the person does it.

I plan to chelate next year, and so I need these tests first.

I have been pondering extensively how I can get genovations without

dropping a lot of unecessary money on a new practitioner out of state.

> > >

> > > HI Everytone.

> > >

> > > Well I got the shock of my life today when the results of my test

> > > came back. The worst thing is the that their is " no gene present

> > on

> > > either chromosome for GSTM1 " !!!! and a + - on GSTP1. It is called

> > > null allele. Rich can you give me help with this??? Do I

> > understand

> > > this correctly???

> > >

> > > In effect they are saying their is no gene present on either

> > > chromosome to make glutathione. I think! IS THAT RIGHT??? So I

> > can't

> > > detox! They obviusly suggest raising glutathione!

> > >

> > > I am good with that, except I got that terrible reaction with Whey

> > > protien Isolate and that terrrible yeast infection that cost me at

> > > least a $1,000. to clear and I am still working on that. I waiting

> > > to try again the True Whey by Source Naturals. CAN ANYONE GIVE ME

> > > HELP WITH THIS???? I CANNOT TOLERATE NAC!!!

> > >

> > > That is the worst of it, but I also have problem with CYP1BI and

> > > this detoxs car exhaust, cigurette smoke and charbroiled foods, it

> > > also detoxifies estrogen! I just came back with a Class 2, pap,

> > been

> > > on low dose HRT for one year. I have to go to biodential hormones,

> > > looks like to me. CAN ANYONE GIVE ME HELP HERE???? Am I thinking

> > > corectly on this???

> > >

> > > I have another problem with CYP2C9! This detoxs alot of drugs! No

> > > wonder anesthia floors me!!! " prevents the normal metabolism of

> > some

> > > drugs " . I have a very long list. CAN ANYONE HELP ME HERE???? Rich

> > is

> > > their a way to get around this????

> > >

> > > My last problem is another gene CYP2C19 which is also involved

> > with

> > > detoxing more drugs. I have another very long list! " Risk of

> > > phenytoin toxicity " . CAN ANYONE HELP ME HERE??? Is their a way to

> > > get around this???

> > >

> > > Lastly, it says, " superovide dismutase is the primary anti-oxidant

> > > enzyme with the mitochondria of cells. SOD2 converts reactive

> > oxygen

> > > species into less reactive hydrogen peroxide. Polymorphisms in

> > SOD2

> > > + and ++ are associated with reduced SOD activity and thus higher

> > > risk of oxidative stress and related conditions. This genotype has

> > > specifically been associated with cardiomyopathy " ! THIS SOUNDS

> > REAL

> > > FAMILIAR FROM THIS LIST!!! DO I NEED TO TAKE SOD??? CAN ANYONE

> > HELP

> > > ME HERE??? Rich is their a way to get around this???

> > >

> > > I feel like I faced my mortality today. One of things I do have

> > > going is I can supplement glutathione, but it has been a very

> > rough

> > > day!!

> > >

> > > Any help would be so very much appreciated.

> > >

> > > Janet

> > > in San Diego

> > >

> >

>

>

>

>

>

>

>

[Guest guest]

I'm sure this was all discussed in some long-ago post before I

arrived here, but....

Y'all are throwing around the names of these genetic tests, and those

of us who've been here less than nine months probably have no clue as

to what they are. Yet, based on the tour-de-force reading Rich just

gave Janet, at least some of them can be tremendously powerful and

useful going forward.

Would someone be so kind as to summarize the various genetic testing

regimes available (with links, costs, and info on how to get them, if

possible), and perhaps suggest the appropriate order in which they

might be taken?

This would be a huge help in understanding what appears to be a truly

astonishing conversation. Thanks.

Sara

On Jul 14, 2006, at 7:40 PM, jill1313 wrote:

> I wouldn't characterize myself as an angry person, but I definitely am

> angry at the fact that NY State makes it nigh impossible for me to get

> certain tests, that's definitely true. It's infuriating, and corrupt

> on their part.

>

> It also makes it more difficult for me to forge my own future path to

> wellness, if I have to spend so much more $ in order to try and find

> an out of state doctor so I can get some of the tests that might be

> truly informative.

>

> Maybe the word I should use is frustrated. I am extremely frustrated

> that 1) it costs $750 and takes TWO MONTHS for me to get results back

> from testing4health, where most lab tests come back in a week or two

> and 2) that I can't even GET the genovations test that I need...

>

> So that is really frustrating. My doctor would order the test for me

> if she could, but she can't, its not " standard practice " and Genova

> won't even allow a NY State doc to order it anyway.

>

> The organic acids test from Great Plains--they are not standard

> practice EITHER in NY so I " m not sure how my doc will feel but they

> leave it up to the docs, and WILL do the tests if the docs send

> them in.

>

> So two of the main tests I want to get are not " standard " in NY and

> are difficult or impossible to get.

>

> That is SO frustrating.

> End of rant. (that's a smiley)

>

>

>>>>>

>>>>> HI Everytone.

>>>>>

>>>>> Well I got the shock of my life today when the results of my test

>>>>> came back. The worst thing is the that their is " no gene present

>>>> on

>>>>> either chromosome for GSTM1 " !!!! and a + - on GSTP1. It is called

>>>>> null allele. Rich can you give me help with this??? Do I

>>>> understand

>>>>> this correctly???

>>>>>

>>>>> In effect they are saying their is no gene present on either

>>>>> chromosome to make glutathione. I think! IS THAT RIGHT??? So I

>>>> can't

>>>>> detox! They obviusly suggest raising glutathione!

>>>>>

>>>>> I am good with that, except I got that terrible reaction with

> Whey

>>>>> protien Isolate and that terrrible yeast infection that cost

> me at

>>>>> least a $1,000. to clear and I am still working on that. I

> waiting

>>>>> to try again the True Whey by Source Naturals. CAN ANYONE GIVE ME

>>>>> HELP WITH THIS???? I CANNOT TOLERATE NAC!!!

>>>>>

>>>>> That is the worst of it, but I also have problem with CYP1BI and

>>>>> this detoxs car exhaust, cigurette smoke and charbroiled

> foods, it

>>>>> also detoxifies estrogen! I just came back with a Class 2, pap,

>>>> been

>>>>> on low dose HRT for one year. I have to go to biodential

> hormones,

>>>>> looks like to me. CAN ANYONE GIVE ME HELP HERE???? Am I thinking

>>>>> corectly on this???

>>>>>

>>>>> I have another problem with CYP2C9! This detoxs alot of drugs! No

>>>>> wonder anesthia floors me!!! " prevents the normal metabolism of

>>>> some

>>>>> drugs " . I have a very long list. CAN ANYONE HELP ME HERE???? Rich

>>>> is

>>>>> their a way to get around this????

>>>>>

>>>>> My last problem is another gene CYP2C19 which is also involved

>>>> with

>>>>> detoxing more drugs. I have another very long list! " Risk of

>>>>> phenytoin toxicity " . CAN ANYONE HELP ME HERE??? Is their a way to

>>>>> get around this???

>>>>>

>>>>> Lastly, it says, " superovide dismutase is the primary

> anti-oxidant

>>>>> enzyme with the mitochondria of cells. SOD2 converts reactive

>>>> oxygen

>>>>> species into less reactive hydrogen peroxide. Polymorphisms in

>>>> SOD2

>>>>> + and ++ are associated with reduced SOD activity and thus higher

>>>>> risk of oxidative stress and related conditions. This genotype

> has

>>>>> specifically been associated with cardiomyopathy " ! THIS SOUNDS

>>>> REAL

>>>>> FAMILIAR FROM THIS LIST!!! DO I NEED TO TAKE SOD??? CAN ANYONE

>>>> HELP

>>>>> ME HERE??? Rich is their a way to get around this???

>>>>>

>>>>> I feel like I faced my mortality today. One of things I do have

>>>>> going is I can supplement glutathione, but it has been a very

>>>> rough

>>>>> day!!

>>>>>

>>>>> Any help would be so very much appreciated.

>>>>>

>>>>> Janet

>>>>> in San Diego

>>>>>

>>>>

>>>

>>>

>>>

>>>

>>>

>>>

>>>

[Guest guest]

Hi Rich.

My Mom started her periods at 9 years old and I did develop early. Wore a bra

at 8. The teasing at that young age was not fun. I also have had fibrocystic

breasts my whole life..

I think you are on to something with this estrogen level being messed up and

maybe causing some of the problems with CFS.

I also recall being trrapped in the car with both parents smoking!!!!

Thank you again for your help. Saunas and detox here I come!

Janet

in San Diego

rvankonynen <richvank@...> wrote:

Hi, Janet.

>

> HI Rich,

>

> Thank you so much for taking the time and energy to get back to

me. I am still learning so clarity I needed. You are a blessing!

***You're welcome!

>

> About glutathione, I have gone back to the sublingual

glutathione about 200-300 mgs every day. I have the liposomal

glutathione in my fridge and I am so tempted to try maybe a teaspoon

a day and see how that goes. Yeast is being controlled (gone) by

Candex and I take some Lactoferrin every day. DO YOU THINK THAT

WOULD BE OK.???

***Go for it! I would just suggest paying attention to how it makes

you feel. If good, continue. If crummy, stop. We don't know what

your methylation SNPs look like yet. If you should happen to have a

CBS SNP, especially if combined with a SUOX SNP, the glutathione

might make you feel crummy because of inability to get rid of

sulfites fast enough. But I understand your wanting to get on with

it. Twenty-five years is enough!

>

> I do try to stay away from smoke, I will be even more careful

now and since I live about 10 miles from the beach, I get good clean

arir. I am grateful for that.

***That sounds good.

>

> My sister has aleady had breast cancer (one breast was showing

the problem and the other had calcim deposits in it), so she has had

both removed. This happened pretty quicly after she started HRT. She

does smoke/drink and I do neither. I have only been on the HRT for

one year, I resisted for three years before that, but I just could

not take it any longer. This morning I ordered Indol-3-carbinol

which is showing promise against this problem. I have not had a

mammogram since I started HRT, so I know that is on my " to do list

NOW! "

***That sounds good. I did look into the literature to see if there

is any evidence that HRT can cause elevated breast cancer risk for a

woman who has a CYP1B1 SNP, and found a paper. The abstract is at

the end of this post. It does say that there is an increased risk,

but it isn't easy to apply it to your case, because they are talking

about what's called the CYP1B1*3/*3 genotype. What genovations

tests for is two SNPs combined, one of them being the *3 and the

other being the *4. The Genovations report doesn't say exactly

which combination of alleles you have, and it may not be the *3/*3

combination. So the issue is a litte muddy. If you want to get a

copy of the full paper, it's free at PubMed. Just punch in the PMID

number in the search box at PubMed, and click on the symbol at the

top.

>

> The only drug that worries me a little is Neurontin I was taking

for my neuropathy, but I stopped that when even a dose as low as 200

mg, made me dizzy! I am still trying to address that problem.

(Exercise makes that better.) Yesterday in the doc's office he had

a " Aware Magazine "

>

> on FM and it it they are using Lyrica for FM and it also works

for neuropathy. He gave me a RX for that in a low dose.

***Neurontin is excreted unchanged in the urine, so the dizziness

would not have been related to SNPs in your detox system. Lyrica

behaves the same, less than 1% being N-methylated, the rest going

out in the urine unchanged, so your detox SNPs should not be

involved with it, either.

***I'm hopeful that your neuropathy will be cleared up once your

methylation cycle is working well again. That of course will have

to wait until you get the Yasko panel back and can figure out what

supplements to take to compensate for whatever SNPs show up there.

Methylation is important for the nervous system, since it is

required for making myelin, which is the electrical insulation on

nerve fibers.

>

> I was at the dentist and had quite a reaction to epinephrine. I

know now why!

***Yeah, the COMT SNP probably has something to do with that!

>

> I do notice that I don't have a problem with mood swings, but my

patience level could be better.. I also tend to be more of the loner

type.

***Hmmm. Well, I know I keep saying this, but the neurotransmitter

levels are affected by other aspects, such as the biopterin cycle,

which is linked to the folate metabolism, which is linked to the

methylation cycle, so if you have SNPs there, that could hold down

the levels of your neurotransmitters. We'll just have to wait and

see about that. I don't know about the loner part...maybe you have

a loner SNP! (:-)

>

> I do eat some organic foods, but I will eat more, now that I

know.

***O.K.

>

> SOD does come in a sublingual. WOULD THAT HELP ME???

***I don't know. Do they have any evidence that the SOD will get

into the cells, and then into the mitochondria? What kind of SOD is

it? Is it the mitochondrial type, with manganese, or is it the

cellular cytosolic type, with copper and zinc? The first one is the

one that has the SNP.

I do take OPC's.and I will add in the VIT C.

***O.K. In order to get the benefit from the vitamin C in this

situation (glutathione depletion), you will need to go up to bowel

tolerance (just below where it softens your stools, and you have to

find out where this dose is experimentally, so it's best to stay

near the " water closet " when you are experimenting!)

I have shown high mercury before, so I know that is one of my

toxins.

***O.K. That makes sense.

>

> I was wondering if I could do a liver flush now and be safe????

Biotics have a good program and the doc also mentioned it. WHAT DO

YOU THINK???

***I think it would be O.K., so long as you don't have gallstones

that could get stuck in your bile ducts. Also, I don't think that

doing them very often is a good idea, because it can deplete your

bile salts.

Do I have to know what the toxins are?? Or can I go with a general

cleanse and get the process going??? I do know in the past I have

used sauna's with great success! Even was able to go back on the

treadmill, so I think my toxic body needs relief as soon as

possible. I would not even attempt to approach the metals with

chelation at this point.

***I think a general cleanse would be O.K. I'm glad to hear that

you can tolerate saunas. PWCs who have low cardiac output can have

a tough time if their body is heated, because the blood is released

to flow to the skin in an effort to cool the body, and since there

isn't enough total cardiac output to go around, the brain gets less

blod flow than it needs, and the person passes out.

>

> You hit the nail on the head about heavy periods! Started when I

was 9 years old, very heavy and painful!! Went the full 7 days. No

endometriosis.

***Wow! Nine is pretty early to start that, and heavy to boot!

That's kind of interesting, though. You must have had higher tnan

normal estrogen levels at that age, perhaps because the estrogen was

not being broken down by the detox system as fast as normal. I

realize that this gets into a " touchy " area, so you should tell me

to buzz off if you want to, but did your body " develop " early,

also? I would think that it would have, if the estrogen level was

high. Well, I had better get off this subject and back to working

on a safer topic, like mitochondrial dysfunction!

***Over the years, though, I've read a lot on the lists from women

who have CFS, about PMS, menstrual irregularities, heavy periods,

endometriosis, fibrocystic breasts, and other things of that sort,

but I'm not able to say whether there is more of this in CFS than

for women in general. I'm starting to wonder, though, whether this

CYP1B1 thing might be messing up the estrogen levels in women who

have CFS, and whther that might be causing some of this stuff. This

afternoon I dug up some more Detoxigenomics test results, and so far

we are batting 1000 on PWCs having the CYP1B1 SNP. I have test

results now from six women and two men with CFS, and all of them

have this SNP. I tried to find out what the frequency of this SNP

is in the general healthy population, and it's kind of messy to make

the comparison, because Genovations combines two of them, and I'm

not smart enough yet to figure out how to compare this with what the

researchers have done in the literature, but I don't see numbers

anywhere close to 100% for the general population, so I think this

might be a significant difference.

>

> For me, I want to detox as quickly and safely as I can.

***I get that, and I agree.

I think this is a lot of my problem and get that glutathione up.

***I think so, too.

Amy's test is really holding things up for me. I sent my test in on

5/15/06 and I still don't even have my labs back. When I called the

office they told me 8 weeks is about right on time.

***Yes, that's an ongoing problem.

My biggest worry along with the rest of this is that estrogen

problem. I hope I have managed to avoid a breast cancer problem. I

don't think I am up for that.

***I don't know anyone who would sign up for that. I had cancer a

little lower down eight years ago, and I'm not volunteering to try

it again! So far, so good.

>

> Again thank you so much for your help. I have been sick for 25

years. This list has helped me more than anything. I am very

grateful.

***I appreciate your being willing to try these things. We are all

learning from you and from the others here who are giving this a

shot.

>

> Janet

> in San Diego.

***Rich

Carcinogenesis. 2003 Sep;24(9):1533-9. Epub 2003 Jul 4. Related

Articles, Links

Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast

cancer risk.

Rylander-Rudqvist T, Wedren S, Granath F, Humphreys K, Ahlberg S,

Weiderpass E, son M, Ingelman-Sundberg M, Persson I.

Division of Molecular Toxicology, Institute of Environmental

Medicine, Karolinska Institutet, SE-171 77 Stockholm, Sweden.

tove.rylander@...

Cytochrome P450 1B1 (CYP1B1) is active in the metabolism of

estrogens to reactive catechols and of different procarcinogens.

Several studies have investigated the relationship between genetic

polymorphisms of CYP1B1 and breast cancer risk, however, with

inconsistent results. We investigated such an association in

postmenopausal Swedish women, with special emphasis on long-term

menopausal hormone users, in a large population-based case-control

study. We genotyped 1521 cases and 1498 controls for the CYP1B1

single nucleotide polymorphisms (SNPs) m2, m3 and m4 and

reconstructed haplotypes. The frequencies of CYP1B1*1, CYP1B1*2,

CYP1B1*3 and CYP1B1*4 alleles among controls were estimated to be

0.087, 0.293, 0.444 and 0.175, respectively. It thus appeared that

very few haplotypes contained combinations of SNPs at two or three

loci and that single SNP genotype data effectively represented

haplotypes. Odds ratios (OR) and 95% confidence intervals (CI) were

calculated from logistic regression models. We found no overall

association between any CYP1B1 genotype and breast cancer risk. The

data indicated, however, that women who had used menopausal hormones

for 4 years or longer, and carried the CYP1B1*3/*3 genotype may be

at increased risk of breast cancer, OR 2.0 (95% CI 1.1-3.5),

compared with long-term users without this genotype. We explored the

effect of CYP1B1 genotype on breast cancer risk in subgroups defined

by body mass index, family history, smoking and catechol-O-methyl

transferase genotype, but found no convincing evidence for

interaction. In summary, our results strongly indicate that the

studied CYP1B1 gene polymorphisms do not influence breast cancer

risk overall but may modify the risk after long-term menopausal

hormone use.

PMID: 12844487 [PubMed - indexed for MEDLINE]

[Guest guest]

On Jul 14, 2006, at 11:02 PM, Janet s wrote:

> My Mom started her periods at 9 years old and I did develop

> early. Wore a bra at 8. The teasing at that young age was not fun.

> I also have had fibrocystic breasts my whole life..

>

> I think you are on to something with this estrogen level being

> messed up and maybe causing some of the problems with CFS.

Although I am perhaps a counter-example. Women in my family don't

typically reach menarche until about 14. This includes my mother

(late 13), myself (14 almost exactly) and my daughter (almost 14.5).

Though my mother has fibrocystic breasts, and had a hysterectomy at

44 for really awful uterine fibroids, I seem to have ducked that gene.

If my estrogen level is messed up, it's probably the other way. Dr.

Tenenbaum, being an endocrinologist, was actually pretty confusion

about this. He noted that my appearance is that of a woman with

estrogen dominance (round, large chest, prone to facial edema), and

was really surprised when he asked the usual estrogen dominance

questions and kept getting " no, nope, huh-uh " for an answer. But my

levels have tended toward the low side since my mid-30s, and my

periods have always been scant and extremely easy, usually coming on

long (32-35-day) cycles -- the very opposite of what would be expected.

I've always assumed that being a DES daughter factored largely in the

mix. It may explain why my body looks like it's making way too much

estrogen: I got exposed to a lot of it in utero, which fattened me

the way they used to use DES to fatten calves. But when I'm depending

on my own equipment, it's actually a bit on the low side.

Sara