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A 26-year-old female asked:

If my aunty on my mums side has lebers mitochondrial disease, would the dna show up on my report through genetic testing or could it not be present? i have a few similar symptoms but dr has put down to low b12, iron, high blood pressure, anxiety&dep?

2 doctor answers3 doctors weighed in
Dr. Yvette Kratzberg
Pediatrics 24 years experience
Leber's Mitochondrial Disease is characterized by optic neuropathy in which the patients central vision deteriorates over time. Other Mitochondrial diseases typically cause poor growth, muscle weakness/pain, learning disabilities/autism, diabetes, gastrointestinal problems, seizures. High blood pressure an anxiety/depression are not associated with Mitochondrial Disease.
Dr. Ellen Elias
Specializes in Clinical Genetics
it is not clear what kind of genetic testing this patient has had. Was mitochondrial DNA done? Mitochondrial mutations are maternally inherited but there is heteroplasmy, so not all mitochondrial in all cells have the same mutation. There can be many symptoms associated with Leber's, but they can be also seen in other conditions.

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Last updated Jun 9, 2021

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