MTHFR gene mutation, the journey thus far. EVERYONE GET TESTED!

samjones....i am thinkiing of doing the 23 and me test for my wife but am wondering if you or anyone else on here know someone that can interprett the results...? Obviously do not mind paying for the service? My wife has been tested for A1298c with a single copy and negative for c677t so i have been told that is not a problem...however wondering about comt ..she is hererozygous for comt*2 and am wondering about othre things also as she has been through oral and iv's and shows no improvement and is almost completely bedridden with overwhelming weakness and fatigue and her immune system numbers are way down also?

Another thing is that if you test postive for the CBS mutation you most likely have too much ammonia in your body, which has many of the same symptoms as lyme.

DetoxiGenomic tests, Yasko's DNA Methylation Pathway Analysis, and 23andme.com's tests do have some overlap, but there are also some differences:

The DetoxiGenomic test is focusing on Phase I & II liver detox, and does not (in my opinion) adequately cover methylation (they only look at COMT, not MTHFR or other mutations that Yasko tests).

DetoxiGenomic Test Profile

Phase I Detoxification

Cytochrome P-450
CYP1A1
CYP1B1
CYP2A6
CYP2C9
CYP2C19
CYP2D6
CYP2E1
CYP3A4

Phase II Detoxification

Methylation
COMT V158M

Acetylation (N-acetyl transferase)
NAT1 R64W
NAT1 R187Q
NAT2 I114T
NAT2 R197Q
NAT2 G286E
NAT2 R64Q
NAT2 K268R

Glutathione Conjugation (Glutathione s-transferase)
GSTM1 1p13.3
GSTP1 I105V
GSTP1 A114V

Oxidative Protection
SOD1 G93A
SOD1 A4V
SOD2 A16V

Yasko's DNA Methylation Pathway Analysis tests the following:

COMT V158M
COMT H62H
COMT 61
VDR Taq
VDR Fok
MAO A R297R
ACAT 102
MTHFR C677T
MTHFR 3
MTHFR A1298C
MTR A2756G
MTRR A66G
MTRR H595Y
MTRR K350A
MTRR R415T
MTRR S257T
MTRR 11
BHMT 1
BHMT 2
BHMT 4
BHMT 8
AHCY 1
AHCY 2
AHCY 19
CBS C699T
CBS A360A
SUOX S370S
SHMT C1420T
NOS D298E

23andme.com does test for one MTHFR mutation and some of the other methylation mutations, but does not include all of the same list of mutations Yasko tests for. See this FAQ answer for more info:
/customercare.23andme.com/entries/23069087-Does-the-23andMe-service-include-analysis-of-the-MTHFR-gene-

I've had the DetoxiGenomic and Yasko DNA Methylation Pathway Analysis tests done, and have the test kit for 23andme.com but haven't sent in my sample yet.

So...if you have this mutation can you buy the special vitamins OTC???

This is really interesting...

I must not forget to ask my dr about this, this might maybe be the solution to some problems.

My body can't handle herxing (COX-2 cascade) and I have serious histamine intolerance.

I just read that methylation is required for breaking down histamine too...

Maybe I'm wrong, but I see a connection here.

 ?

No, there isn't one study proving that depriving yourself of essential nutrients will kill the bacteria. The bacteria will just take it from you instead! I don't know too much about the MTHFR gene though. Do you do IV Vitamin things instead ?

Thanks for the quick replies. No, I'm not on IV vitamins. I haven't started the biaxin/plaquenil regimen yet, and I have not yet stopped taking my liquid multi or methyl B12 (as advised). I'm trying to research all of this more before taking these actions.

It wasn't so much that not taking the B vitamins would kill the bacteria, but more that taking the Bs keep the bacteria stronger (paraphrased...).

Thanks again - if I find more info I will pass it on.

My daughter was tested a few months back and the doc simply prescribed active B12. Sounds like there's lots more to do. Her test said she is "positive for one copy of the C677T mutation." Is that the same as being heterozygous or does the "one copy" thing point to something else?

Thanks so much for the wealth of info

Hi Emmi, I was told the same thing about B vitamins by my doctor. I have read about both sides to this argument. I'm not sure which is right.

I READ SUM MORE,,this is difficult 4 me,,,i du think this site will b helpfull,,,it truely is good 2 talk 2 people that r going thru the same thing as me,,,after all these yrs of getn so much false info,,,ty all

I've enjoyed the posts and info here and want to add my 2 cents. My enlightened psychiatrist had me test for MTHFR mutations and I have 1 copy of both. I come from of family suffering from myriad issues of depression, anxiety, addiction, autism, ADHD, with some OCD thrown in just to make it interesting. Plus chronic fatigue and fibromyalgia. The doc prescribed L-methyl folate, my brand is Deplin. I started taking it 9 months ago with no expectations, more like, well this could be interesting. I felt a big change the first day, but that soon leveled out into a powerful yet strong feeling of being more grounded in myself. I am more "me" than I've been in decades. Taking the test and going on Deplin has been the most life-changing, positive experience ever. However subtle it is, and I think it's taken me a while to trust this isn't some snake oil, but really works. The mutation prevents folate from being properly processed in my brain - so my ability to make my own seratonin, dopamine and norepinephrine were severely reduced.
I was able to quit 1 of 2 anti-depressants, and finally deal productively with phobias and anxiety, which all but crippled me. I am driving on the freeway, something I could not do for 15 years. I am just a stronger, more grounded person overall. Life changing, big time.
But wait, there's more.
My husband is a veteran with PTSD plus ADHD. I asked him to test for MTHFR more as a fluke than anything. He's positive for the same 2 mutations (so the universe put us together?). So he started taking Deplin and By God it has improved both conditions. He is on month 4. I've been Eagle Eyes on him, waiting for the Placebo affect to show, but it has truly been an amazing transformation.
I am pushing for my family to test. Mom is positive for the same mutations and I can't wait for her to start taking l-methylfolate.
Deplin is $50 per month. The test is $130 but covered by Medicare so co- pay is about twenty bucks. The $50 per month for Deplin is the best freakin money I could ever spend.
I'm reading here that docs are telling patients to take more folate. That doesn't work if you have the mutation(s). You need the refined form, L-methylfolate. Then you can make your own seratonin, dopamine and norepinephrine - the mental health goodies.
Thanks for letting me share. It's estimated that 20% or more have the mutation. As a non-amphetamine treatment for ADHD, I can testify that yes, it is worth exploring. There is interesting research connecting mthfr with autism. This is worth exploring, and if i had an autistic child i would run, not walk, to have my child tested.

Important! Quest Diagnostics is reliable for the test. Kaiser won't do it and Sutter will only test for the mutation associated with miscarriage. Do your research. The National Institute for Health is a good resource, but even Dr. Oz has an article about MTHFR on his website.

If you're depressed or anxious, you are worth it to at least check this out, give it 4 to 6 months. It's the best $300 you will ever spend on yourself and you are worth it. I think I've wasted too much of my life being captive to my depression and anxiety. There's hope, people. Never doubt you deserve to feel better.
Again, thanks for letting me share.

I just discovered I have 2 homozygous mutations: VDR Taq and MTRR A6664A. I also have heterozygous mutations for: MAO-A R297R, MTRR A66G and CBS C699T.

I can't afford to see a nutritionist but from what I've been able to piece together from researching the websites, it sounds like I have to first treat the upregulation of CBS (so I'm reducing proteins, taking activated charcoal in the evenings, and Yucca for high ammonia). then I'm taking b12, Turmeric, Choline, milk thistle, and Methyfolate.

If anyone has any other advice for me I'd be really grateful. I have hashimoto's thyroiditis so for this I have to take levothyroxine and selenium.