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my genetic profile

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by pgoody, May 28, 2013.

  1. pgoody


    Finally my results came in and I am finally able to look at my SNPs. I called the COMT double homozygotes by the way, the only ones I was sure about. If I made any mistakes with + or - please let me know (that's why I'm including the call letters). I know I could use Genetic Genie, but I don't want to proliferate my genetic information (any more than this, hehe).

    "Normal" My Results
    COMT V158M GG AA (+/+)
    COMT H62H CC TT (+/+)
    COMT -61 P199P GG GG ( -/- )
    VDR Bsm/Taq CC CT (+/- )
    MAO A R297R G G ( -/- )
    ACAT1-02 GG GG ( -/- )
    MTHFR C677T GG AG (+/- )
    MTHFR 03 P39P GG GG ( -/- )
    MTHFR A1298C TT TT ( -/- )
    MTR A2756G AA AG (+/- )
    MTRR A66G AA AG (+/- )
    MTRR H5954 CC CC ( -/- )
    MTRR K350A AA AA ( -/- )
    MTRR R415T CC CC ( -/- )
    BHMT-02 CC CC ( -/- )
    BHMT-04 AA AA ( -/- )
    BHMT-08 CC CT (+/- )
    AHCY-01 TT TT ( -/- )
    ACHY-02 AA AA ( -/- )
    ACHY-19 TT TT ( -/- )
    CBS C699T GG GG ( -/- )
    CBS A360A GG AA (+/+)
    CBS N212N GG GG ( -/- )
    SHMT1 no call (?)

    Oops I thought I could format this a little better, first 2 letters are normal results second are my results. So, as I sort of predicted I am a COMT double homozygote. Other than that I only have the CBS A360A homozygote gene. I don't feel too concerned about my heterozygote genes. Does anyone know anything more about the A360A variation? Any other thoughts?
  2. Valentijn

    Valentijn Senior Member

    Apparently another way to designate the A360A is as "1080C". According to  Cystathionine Beta Synthase this results in an up-regulation of homocysteine degradation, which can result in a build-up of ammonia, sulfites and sulfates. Those are toxic, hence a build-up is bad. That site recommends limiting protein, but if that doesn't work for you (it certainly makes me feel awful to limit protein), supplementing BH4 and avoiding sulfur-rich foods may help. The CBS gene you're upregulated for is the less important one compared to C699T, so it might not be too big of a problem for you.

    The MTR and MTRR also really might not be a big problem for you. With your COMT issues you shouldn't be short of methyl groups, so methyl-B12 supplementation probably isn't going to help much compared to other forms of B12, and might cause some methyl overdose symptoms.

    The MTHFR is interesting, because that's a down-regulation of creating folate, which is needed to convert homocysteine into methionine. That's an alternative path for degrading homocysteine, rather that turning into cystathionine (and ammonia, sulfites and sulfates). So supplementing methylfolate might help with the CBS problems, but also might cause problems from having too much methyl-. However, the amount of methylfolate needed is quite small, so it might not cause problems. It's certainly something to be aware of anyhow.

    The VDR problems regarding slowed dopamine production shouldn't be much of an issue, since the COMT problems mean you're breaking it down slower anyhow. Maybe it balances out :confused: But vitamin D supplementation is still likely necessary.

    So in summary your problems don't seem extreme, and actually some might be balancing out each other without mucking you up too badly in other ways. But vitamin D and a small (normal) dose of methylfolate might be helpful, and BH4 as well as avoiding sulfur-rich foods if you seem to be having problems with those. High-doses of anything containing methyl- groups is probably a bad idea.
    pgoody likes this.
  3. pgoody


    Thanks for highlighting my variants Valentijn,

    I had low Vit D (16ng/ml) last fall and supplemented it back up to normal within a few months. It's definitely something I will have to keep an eye on.
    Valentijn likes this.

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