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Lessons from ME/CFS: Finding Meaning in the Suffering
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Finally received my 23andme results...

Discussion in 'Genetic Testing and SNPs' started by Stewart, Jan 19, 2014.

  1. Stewart

    Stewart

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    It's taken nearly 3 months, but I've just received an email from 23andme to let me know that my results are ready. After running the data through Geneticgenie, this is what I've got:

    Methylation

    VDR Taq ++
    MAO-A R297R ++
    MTRR A66G ++
    MTRR A664A ++
    COMT V158M +-
    COMT H62H +-
    MTHFR C677T +-
    BHMT-08 +-
    CBS C699T +-

    Detox (all heterozygous)

    CYP1A2 164A>C
    CYP1B1 L432V
    CYP1B1 N453S
    CYP1B1 R48G
    CYP2C9*3 A1075C
    CYP2C19*17
    CYP2D6 S486T
    CYP2D6 100C>T
    SOD2 A16V
    NAT2 I114T
    NAT2 K268R

    I've tried to look up all of these mutations and get some idea of what they do and how they might interact, but there doesn't seem to be much information out there for some of them.

    From my understanding the MTHFR and MTRR mutations mean that I need to supplement with methylcobalamin and methylfolate (which I've been doing for the last four months) but the COMT mutations mean that I'm sensitive to methyl donors (which has certainly been my experience) so I need to start with low doses and increase slowly and carefully.

    The CBS mutation complicates things further, as it means that my transsulfuration pathway gobbles up all the methyl donors and converts them to taurine and ammonia. I gather that there's some disagreement about the extent to which this mutation poses a problem, but my most recent test results showed that my ammonia levels were very high while my glutathione levels were very low, so it looks as if this is an issue for me. The VDR mutation will also have an effect on the CBS one, but I can't work out whether it'll be offsetting the impact or making it worse. Can anyone enlighten me?

    Looking at the Detox SNPs, the one that stands out to me is SOD2 as I know that my Mn-SOD level is very low (as is my Zn/Cu-SOD level).

    Does that seem like an accurate summary or have I overlooked something important in these results? I only starting to understand the basics of SNPs and mutations, so I'd be grateful for comments from anyone with a better grasp of the subject.
  2. Valentijn

    Valentijn Activity Level: 3

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    @Stewart - B12 and methylfolate are needed. HydroxoB12 is an alternative to methylB12 which can avoid the methyl issues.

    These CBS SNPs are meaningless, and can be ignored unless you like making things complicated for no reason.
  3. Stewart

    Stewart

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    Thanks for taking the time to reply - I appreciate it.

    Can you clarify for me what you mean when you say that the CBS SNPs are meaningless? My understanding - from trying to follow a few threads on this forum - is that while the CBS mutation *does* result in an upregulation it's nowhere near the 10x increase that Amy Yasko has claimed, although it might still be a problem that some people have to address before they can supplement with methylb12 and methylfolate. Is that more or less correct, ot have I missed something?
  4. Valentijn

    Valentijn Activity Level: 3

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    The upregulations caused by certain genotypes have a small effect size, at most, and every study regarding those upregulations has shown that they are beneficial. There is no published evidence showing that they ever cause any negative effects in any manner.
  5. Stewart

    Stewart

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    Thanks for answering my questions on this. I've been re-reading some of the older discussions about the effects of this mutation, and I *think* I've got a better understanding of it now. I'm still a bit concerned about whether this could be causing/contributing to my high ammonia levels - but I'm having some more tests done, so hopefully that'll clarify things.

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