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mitochondrial testing?

aquariusgirl

Senior Member
Messages
1,732
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:

pattismith

Senior Member
Messages
3,926
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