Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

ABSTRACT: Leber's hereditary optic neuropathy is a maternally inherited blinding disease caused as a result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. It is characterized by incomplete penetrance, as only some mutation carriers become affected. Thus, the mitochondrial DNA mutation is necessary but not sufficient to cause optic neuropathy. Environmental triggers and genetic modifying factors have been considered to explain its variable penetrance. We measured the mitochondrial DNA copy number and mitochondrial mass indicators in blood cells from affected and carrier individuals, screening three large pedigrees and 39 independently collected smaller families with Leber's hereditary optic neuropathy, as well as muscle biopsies and cells isolated by laser capturing f

SUBMITTER: Giordano C 

PROVIDER: S-EPMC3914475 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature