A PWC with a CBS (C699T) (+/+) SNP, as predicted

[Guest guest]

Hi, all.

As most of you are aware, during the past few months I have been

promoting the hypothesis that the genetics and biochemistry that

underly many cases of CFS are very similar to those involved in many

cases of autism. I have suggested that there is a vicious circle

CFS that involves glutathione depletion and a block in the

methylation cycle, as was found by S. Jill et al. in autism,

and as emphasized by both the Defeat Autism Now! organization and

separately by Dr. Amy Yasko in her autism cases. I have encouraged

PWCs who test low in glutathione to have the genetic variations

panel run that is offered by Dr. Yasko at

http://www.testing4health.com. Several of you have gone ahead and

ordered this panel, Sue T. being the first to do so.

Many of you will recall that some months ago I predicted that a

woman named Cheri (who has given me permission to discuss her case

on the list) who is not currently on this list, but whose mother

(Kathy) is on the list (who has also given me permission to discuss

her case), would turn out to have a homozygous (+/+) gene variation

or SNP in her cystathionine beta synthase (CBS) enzyme, the so-

called CBS (C699T) SNP. I also predicted that Kathy would

necessarily be heterozygous in this same SNP, since Cheri received

half her genes from Kathy. I made this prediction on the basis of

Cheri's urinary cystathionine level, which was about 15 times the

mean normal value, and also on her history and the seriousness of

her illness. As you may know, Dr. Yasko has reported that the most

seriously ill of the autistic children have the CBS SNP. Cheri has

one of the most serious cases of CFS that I have encountered.

Cheri has now received the results of her genetic variations test,

and has shared them with me. As I predicted, she is homozygous for

the CBS C699T SNP. Not only that, but she is also heterozygous for

three other SNPs that interact to impact her methylation cycle,

namely MTHFR C677T, MTR A2756G, and MTRR A66G.

I have shared with her that I believe she would benefit from

trimethylglycine, methyl B-12, folinic acid, and FolaPro. I am in

the process of working out an order and dosing schedule for these

supplements.

Cheri also has some other SNPs, but I think these are the most

significant ones.

Kathy's genetic variations test results have not come back yet, but

it is a foregone conclusion that she is at least heterozygous for

the CBS SNP. I think that the fact that her illness is not as

serious as Cheri's, nor is her urinary cystathionine as high, would

argue that she is probably not homozygous for this SNP.

I'm posting this information here for the benefit of others who may

be trying to decide whether it would be worthwhile to have the Yasko

panel run, since it is pretty expensive. Cheri was able to get the

smaller 10-SNP panel, because it was still being offered when she

applied. Currently the larger 40-SNP panel is the only one offered,

but Dr. Yasko has begun to interpret the significance of some of

these other SNPs in autistic children, so I expect that they will be

relevant in some CFS cases as well. Based on what I have seen so

far, I continue to believe that this parallel between CFS and autism

is real in many cases, and that this genetic testing will pay off

for many PWCs.

Of course, we have yet to see whether the targeted supplements will

bring about improvement in Cheri's case, but I can say that the

symptoms she has reported experiencing are consistent with what Dr.

Yasko has found in autistic children with CBS SNPs, and the genetic

results are consistent with her urinary amino acid test results, so

I believe we are finally on the right track in her case.

Rich