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M.Sc Thesis Van Dyk: Evaluating the involvement of mtDNA variants in patients diagnosed with M.E.

Discussion in 'Latest ME/CFS Research' started by Dolphin, Jun 11, 2016.

  1. Dolphin

    Dolphin Senior Member

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    From: Dr. Marc-Alexander Fluks
     
  2. Valentijn

    Valentijn Senior Member

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    Of those three, only MTDNA 9185 is tested by 23andMe on the V3 and V4 chips. Its rsID is rs199476138, and it's on the ATP6 gene. The pathogenic allele is C, so T is the normal version. None of the 31 ME patients who I have matched with controls have the pathogenic version, nor do the controls.

    It causes Leigh Disease, though the severity can vary immensely, even in members of the same family. It usually starts in early childhood, though sometimes not until adulthood, and can be triggered by energy-taxing events like infection or surgery.

    More info is at https://en.wikipedia.org/wiki/Leigh_disease and https://omim.org/entry/516060#0008
     
    Hutan, MEMum, Snow Leopard and 3 others like this.
  3. Sasha

    Sasha Fine, thank you

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    UK
    Nice to see that a PhD student is doing this kind of biomedical work on ME!
     
  4. snowathlete

    snowathlete

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    I have the v3 chip but can't find rs199476138 in my raw data :confused:
     
  5. Valentijn

    Valentijn Senior Member

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    Whoops. They've labeled it as i5002865
     
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