Article
Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Human molecular genetics - 15 Aug 2016
Jiang Pingping, Liang Min, Zhang Chaofan, Zhao Xiaoxu, He Qiufen, Cui Limei, Liu Xiaoling, Sun Yan-Hong, Fu Qun, Ji Yanchun, Bai Yidong, Huang Taosheng, Guan Min-Xin
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disease. Mitochondrial modifiers are proposed to modify the phenotypic expression of primary LHON-associated mitochondrial DNA (mtDNA) mutations. In this study, we demonstrated that the LHON susceptibility allele (m.14502T > C, p. 58I > V) in the ND6 gene modulated the phenotypic expression of primary LHON-associated m.11778G > A...
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