mitochondrial testing?

[aquariusgirl]

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

 

[pattismith]

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?

 

[aquariusgirl]

MT ND 6

What are you doing g for that?

 

[pattismith]

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?

 

[aquariusgirl]

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