The 12th Invest in ME Conference, Part 1
OverTheHills presents the first article in a series of three about the recent 12th Invest In ME international Conference (IIMEC12) in London.
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23andme results help needed :)

Discussion in 'General ME/CFS Discussion' started by Cookie27, Apr 12, 2017.

  1. Cookie27

    Cookie27

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    Hello,

    I have received results for my sons 23.me. I was wondering if anyone could help me with the results?
    He has been quite challenging since he was 2 years old. Very intelligent boy but sometimes he is just very difficult to manage. I have used Yasko site to interpret 23me raw data. Would love some insight cheers

    COMT V158M +/+
    COMT H62H +/+ TT
    COMT 61 -/-
    VDR Taq Tt
    VDR Fok Ff
    MAO A R297R +/+ TT
    ACAT 1-02 +/-
    MTHFR C677T +/-
    MTRR 11 +/- CBS C699T +/-
    CBS A360A +/+ AA
     
  2. Valentijn

    Valentijn WE ARE KINA

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    MTHFR C677T +/- means that enzyme activity is reduced to 65% of optimum. But due to the MTHFR mutations being extremely common, the average is 70%, which makes you pretty normal. The rest of those SNPs are pretty irrelevant.
     
  3. Cookie27

    Cookie27

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    COMT and MAO Homozygous is irrelevant? now I am confused.
     
  4. Valentijn

    Valentijn WE ARE KINA

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    Two of those SNPs are completely irrelevant. COMT H62H and MAOA R297R do nothing. COMT V158M has an impact on that gene, but there's no connection with methylation demonstrated, just the usual baseless speculation.
     
  5. Cookie27

    Cookie27

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  6. Valentijn

    Valentijn WE ARE KINA

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    The symbol for the protein before and after the position number is the same. Hence those SNPs are in coding regions of the gene, but result in no change to the protein.
     
  7. Cookie27

    Cookie27

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    Thanks again for your reply.. could you point towards studies regarding the above.. I would love to read about it .. cheers.
     
  8. Valentijn

    Valentijn WE ARE KINA

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    It's basic genetics. Synonymous variants won't have an impact. Coursera has some introductory classes which will help with these concepts.
     
    merylg likes this.

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