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POLL: What MTHFR mutations do you have?

Discussion in 'Genetic Testing and SNPs' started by drob31, Aug 7, 2014.

?

What MTHFR mutations do you have?

  1. Heterozygous C677T

    12.9%
  2. Hetereozygous A1298C

    16.1%
  3. Compound Heterozygous C677T and A1298C

    35.5%
  4. Homozygous C677T

    16.1%
  5. Homozygous A1298C

    9.7%
  6. Compound Homozygous C677T and A1298C (OH NO!)

    3.2%
  7. Other (please specifiy)

    0 vote(s)
    0.0%
  8. None

    6.5%
  1. NK17

    NK17 Senior Member

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    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.
     
    Gingergrrl likes this.
  2. PennyIA

    PennyIA Senior Member

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    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.
     
    PeterPositive, SOC and victoriana like this.
  3. sueami

    sueami Senior Member

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    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.
     
  4. drob31

    drob31 Senior Member

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

    Gingergrrl Community Support Volunteer

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    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?)
     
    NK17 likes this.
  6. PennyIA

    PennyIA Senior Member

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    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.
     
  7. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    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! :jaw-drop:

    Sushi
     
    Helen, Valentijn and Gingergrrl like this.
  8. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @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?
     
    NK17 likes this.
  9. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    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
     
    SOC, Gingergrrl, NK17 and 1 other person like this.
  10. PeterPositive

    PeterPositive Senior Member

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

    Sorry, brain fog did it :bang-head:
     
  11. drob31

    drob31 Senior Member

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

    PeterPositive Senior Member

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    Last edited: Aug 18, 2014
    MeSci and Valentijn like this.
  13. Valentijn

    Valentijn Activity Level: 3

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

    PeterPositive Senior Member

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

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