The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation
The ND4 G11778A mutation is the most common mitochondrial DNA mutation leading to
Leber's hereditary optic neuropathy (LHON). Despite considerable clinical evidences, the
modifier role of nuclear background and mitochondrial haplotypes in phenotypic
manifestation of LHON remains poorly understood. We investigated the effect of these
modifiers on bioenergetics in lymphoblastoid cell lines derived from five affected subjects of
one Chinese family carrying the G11778A mutation and five Chinese controls. Significant …
Leber's hereditary optic neuropathy (LHON). Despite considerable clinical evidences, the
modifier role of nuclear background and mitochondrial haplotypes in phenotypic
manifestation of LHON remains poorly understood. We investigated the effect of these
modifiers on bioenergetics in lymphoblastoid cell lines derived from five affected subjects of
one Chinese family carrying the G11778A mutation and five Chinese controls. Significant …