POLL: What MTHFR mutations do you have?

[NK17]

I'm ages behind on this, although I got tested by Dr. Kogelnik for the MTHFR C677T mutation and also have the 23andMe done last year.

Based on the single mutation test I'm heterozygous for the C677T mutation.
Still have to double check and cross check my mom's and my 23andMe results .

I've been supplementing with methylb and l-methylfolate for several years now.

 

[PennyIA]

I honestly believe that it's not as simple as one or two genes.

The main MTHFR genes affect the methylation and detox processing in our bodies. AND there are dozens of other genes that impact the same processes.

I think that there might be some connection between having MULTIPLE genetic defects combined in one person ALONG with their toxicity load and/or diet. As in - if your diet is great, your toxic level is low and some great combination of genes in the processes - then you aren't ill even if you have MTHFR this or that.

If folks have high toxicity level or diets then they are ill with or without MTHFR genetics.

But combine multiple defects AND a toxicity load, then improving your diet and lowering your toxicity load - you might be less ill.

So, in my humble opinion? Having MTHFR and related genetics doesn't CAUSE ME/CFS. But addressing toxic load and diet (and perhaps supplements supporting the methylation process) - might help improve symptoms if you have ME/CFS.

Given how little support, treatments, or any other answers with ME/CFS? Well, if it helps a little? I'm all for it.

 

[sueami]

To help clarify the poll results above, I voted compound hetero. I have not received an official diagnosis of anything. Haven't yet tested for viral load/antibodies. May do so if methylation support doesn't provide enough of a recovery.

I have been experiencing unrelenting fatigue since January (lifting now but still recurs if I do too much -- and too much is a fraction of former activity), and prior to that off and on dysfunction (an episode of adrenal crash, a candida overgrowth, a virus that I couldn't shake, various episodes of fatigue and PEM) since fall 09.

 

[drob31]

I can't help but notice how many people are compound hetero so far.

 

[Gingergrrl]

I can't help but notice how many people are compound hetero so far.

That is what I am, too, and already voted in the poll. I asked this question in another post but felt it might be more appropriate in this thread. Does compound heterozygous mean that someone has the "Partial Methylation Block" but is still doing some methylation on their own (or is that not at all what it means?)

 

[PennyIA]

I imagine that any defect in the process that doesn't actually improve methylation (as some do) can provide a partial methylation block.

But I've heard that compound heterozygous seems to be worse than most for health issues.

One site I read indicated that a1298c by itself isn't so bad (which that's what I have) - but that it 'amplifies' the impact of the other defects.

That's part of why I've been theorizing that since not all of us are compound heterozygous - that it could be more of an accumulated issue - as you pile on more and more issues - it can influence your health.

 

[Sushi]

That is what I am, too, and already voted in the poll. I asked this question in another post but felt it might be more appropriate in this thread. Does compound heterozygous mean that someone has the "Partial Methylation Block" but is still doing some methylation on their own (or is that not at all what it means?)

Basically, no. You can have a partial methylation block without these SNPs--I did. If you had a total methylation block you wouldn't be posting here--you'd be dead!

Sushi

 

[Gingergrrl]

Basically, no. You can have a partial methylation block without these SNPs--I did. If you had a total methylation block you wouldn't be posting here--you'd be dead!

@Sushi Eeek, thanks for explaining and I had totally gotten that one wrong! I thought there was a partial and a total methylation block LOL. Your explanation (in my Famvir thread) was very helpful, too, and if I understood correctly, no one would know how much of a blockage they had unless they had their homocysteine levels tested. I wonder why my Dr did not order this test along with the MTHFR test?

 

[Sushi]

@Sushi Eeek, thanks for explaining and I had totally gotten that one wrong! I thought there was a partial and a total methylation block LOL. Your explanation (in my Famvir thread) was very helpful, too, and if I understood correctly, no one would know how much of a blockage they had unless they had their homocysteine levels tested. I wonder why my Dr did not order this test along with the MTHFR test?

It is much more than homocysteine. In the Health Diagnostics methylation pathway test they measure about 13 levels--all the nutrients involved in methylation. (they don't even measure homocysteine) I had a pretty severe level of blockage without MTHFR SNPs.

Sushi

 

[PeterPositive]

Ah silly me... I clicked Heterozygous when I am Homozygous, darn it!
Any chance I can fix the mistake?

Sorry, brain fog did it

 

[drob31]

Out of 23 people, 1/3 have compound hetero mutation.

 

[PeterPositive]

Out of 23 people, 1/3 have compound hetero mutation.

Hmmm... but of those 1/3 we don't know who is really compound and who's not.
Remember? 23andMe doesn't say in which strand the mutations are.

 

[Valentijn]

Hmmm... but of those 1/3 we don't know who is really compound (65% and who's not.
Remember? 23andMe doesn't say in which strand the mutations are.

Odds would be that about half of the 1/3 are actually compound heterozygous. So probably 1/6.

 

[PeterPositive]

Odds would be that about half of the 1/3 are actually compound heterozygous. So probably 1/6.

If we're lucky yes On a small sample like this the distribution could turn out to be pretty strange...