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Article

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.

The Journal of biological chemistry - 18 Sept 2020

Ji Yanchun, Zhang Juanjuan, Lu Yuanyuan, Yi Qiuzi, Chen Mengquan, Xie Shipeng, Mao Xiaoting, Xiao Yun, Meng Feilong, Zhang Minglian, Yang Rulai, Guan Min-Xin

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternal inheritance of eye disease because of the mitochondrial DNA (mtDNA) mutations. We previously discovered a 3866T>C mutation within the gene for the ND1 subunit of complex I as possibly amplifying disease progression for patients bearing the disease-causing 11778G>A mutation within the gene for the ND4 subunit of complex I. However, whether and how the ND1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32723871
DOI: 10.1074/jbc.RA120.014603
PMCID: PMC7504918

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