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Article

Leber's hereditary optic neuropathy-associated ND1 3733G>C mutation ameliorates the mitochondrial quality control and cellular homeostasis.

The Journal of biological chemistry - 1 Aug 2025

Yasheng Meiheriayi, Ji Yanchun, He Yunfan, Yi Qiuzi, Zhang Huanhuan, Shan Wenqi, Wang Kai, Zhang Juanjuan, Li Ya, Meng Feilong, Zhang Minglian, Mo Jun Qin, Wei Shihui, Guan Min-Xin

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy because of mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying LHON-linked mtDNA mutations, especially their impact on mitochondrial and cellular integrity, is not well understood. Recently, the ND1 3733G>C (p.E143Q) mutation was identified in three Chinese pedigrees with LHON. In this study, we investigated...

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Identifiers

PMID: 40639784
DOI: 10.1016/j.jbc.2025.110464
PMCID: PMC12340437

Genes

PINK1

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