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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mitochondrial testing?

Discussion in 'Genetic Testing and SNPs' started by aquariusgirl, Jan 7, 2018.

  1. aquariusgirl

    aquariusgirl Senior Member

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    Hi, I just re-ran the Promethease app /software on my 23andme DNA data & the top hit I got was a predisposition to Leber hereditary optic atrophy.... a vision issue.

    I googled and it came up that it LHON is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6genes.

    LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family.

    Promethease says I have 2 copies of a problematic MT ND6 gene....but also says it could be mislabelled by 23andme. Hmm.


    Any ideas on how to proceed?

    The Genetic Testing Registry says these are the associated genes

    MT-ATP6
    • 48 tests
      Also known as: ATPase6, MTATP6, ATP6
      Summary: mitochondrially encoded ATP synthase 6

    • MT-CO3
      17 tests
      Also known as: COIII, MTCO3, COX3
      Summary: mitochondrially encoded cytochrome c oxidase III

    • MT-CYB
      25 tests
      Also known as: MTCYB, CYTB
      Summary: mitochondrially encoded cytochrome b

    • MT-ND1
      40 tests
      Also known as: MTND1, ND1
      Summary: mitochondrially encoded NADH dehydrogenase 1

    • MT-ND2
      15 tests
      Also known as: MTND2, ND2
      Summary: mitochondrially encoded NADH dehydrogenase 2

    • MT-ND4
      36 tests
      Also known as: MTND4, ND4
      Summary: mitochondrially encoded NADH dehydrogenase 4

    • MT-ND4L
      15 tests
      Also known as: MTND4L, ND4L
      Summary: mitochondrially encoded NADH 4L dehydrogenase

    • MT-ND5
      31 tests
      Also known as: MTND5, ND5
      Summary: mitochondrially encoded NADH dehydrogenase 5

    • MT-ND6
      37 tests
      Also known as: MTND6, ND6
      Summary: mitochondrially encoded NADH dehydrogenase 6
     
    Last edited: Jan 7, 2018
    pattismith likes this.
  2. pattismith

    pattismith Senior Member

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    Hello @aquariusgirl

    I have three mutations on the MT-ND1 according to 23andme.

    what is the position of your mutation, do you have a number?
     
  3. aquariusgirl

    aquariusgirl Senior Member

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    MT ND 6

    What are you doing g for that?
     
  4. pattismith

    pattismith Senior Member

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    ok, I run my datas with promethease to show you how it looks for my MT-ND1 gene:

    on the top at the left you have the rs number (snp number), and in the middle you can find the position (4248 here) of the genotyped snp.

    Maybe if you make a copy of what you can see on your screen, we can understand what you are talking about?


    upload_2018-1-8_8-16-21.png
     
  5. aquariusgirl

    aquariusgirl Senior Member

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    false alarm. the app owners say I dont have it... some misidentification by 23andme?
     

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