Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 77, Issue 6, Pages 1086-1091Publisher
CELL PRESS
DOI: 10.1086/498176
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Funding
- Wellcome Trust Funding Source: Medline
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Mitochondrial DNA (mtDNA) mutations are a major cause of human disease. A large number of different molecular defects ultimately compromise oxidative phosphorylation, but it is not clear why the same biochemical defect can cause diverse clinical phenotypes. There is emerging evidence that nuclear genes modulate the phenotype of primary mtDNA disorders. Here, we define an X-chromosomal haplotype that interacts with specific MTND mutations to cause visual failure in the most common mtDNA disease, Leber hereditary optic neuropathy. This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder.
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