The 12th Invest in ME Research Conference June, 2017, Part 2
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Need help with genetic genie results and neurological issues

Discussion in 'Genetic Testing and SNPs' started by ModernLifeIsWar, May 24, 2016.

  1. ModernLifeIsWar


    For the past month and a half I've been experiencing a few neurological issues. Most notable is action tremors in my hands, legs, core, and even slightly face. Along with this I have also experienced muscle twitches all over and some light tingling sensations as well periodically. I need to figure out what is going on.

    I've been working on improving my diet (though have only just recently stuck to it) and have tried a number of supplements (though stopped these for bloodwork) and symptoms are still persisting.

    I have ordered the following tests:
    Ferritin, Serum
    Folate, RBC
    Homocysteine, Cardiovascular
    Iron, Serum
    Magnesium, Serum
    Methylmalonic Acid, (MMA) GC/MS/MS
    Vitamin B12
    Vitamin D, 25-Hydroxy LC/MS/MS: Vitamin D, 25-OH, Total; Vitamin D, 25-OH, D3; Vitamin D, 25-OH, D2

    Through my neuro as well as a few others such as thyroid, ana, etc.. she suggested. I am currently waiting back on results from these. I just got my 23andme data today and ran it through genetic genie and came out with the results below. I'm trying to process through it and figure out what I need, but based on my symptoms and profile can anyone offer some assistance? This is all a lot of information and trying to understand the big picture of it all is proving a bit difficult.

    Methylation Analysis:

    Detox Profile:

  2. ModernLifeIsWar


    Just read this.

    Having CBS and BHMT in combination with MTHFR A1298C is known as the “BH4 deficiency double whammy”

    It seems this might apply to me. However, I'm not sure what to do about it. I'm doing more research now, but if anyone can offer insight I'd greatly appreciate it.
  3. alicec

    alicec Senior Member

    There is a lot of mythology behind that claim, which is based on Yasko's theories.

    First she completely misinterpreted research on CBS. The CBS SNP she was concerned about actually causes only a minor increase in activity which is protective since it reduces homocysteine. Your +/- would have a small effect.

    Her linkage of CBS upregulation to BH4 depletion via increased ammonia production is also nonsense, a complete misreading of metabolic pathways using ammonia.

    The BHMT -08 SNP is the only one with any effect and that is very small.

    MTHFR A1298C has a small slowing effect on the enzyme, +/- would be very small. Yasko's claims about this SNP also show a complete misreading of the research. The enzyme doesn't run backwards and doesn't regenerate BH4.

    So you don't need to worry about drastic effects on BH4.

    Of the rest of your methylation SNPs, the first COMT would have a small slowing of the enzyme, likewise MTRR A66G.

    A small amount of methyl folate for the MTHFR SNP, a small amount of methylB12 for the MTRR and Magnesium which is a cofactor for COMT, might be helpful - certainly worth trying.

    For the detox SNPs, often it is combinations that are important. I suggest you look at Promethease for an analysis of your CYP SNPs which might be relevant for metabolism of some drugs.
    Valentijn likes this.

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