Leber’s hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy

• Published in: Human molecular genetics Vol. 31; no. 19; pp. 3299 - 3312
• Main Authors: Liang, Min, Ji, Yanchun, Zhang, Liyao, Wang, Xuan, Hu, Cuifang, Zhang, Juanjuan, Zhu, Yiwei, Mo, Jun Q, Guan, Min-Xin
• Format: Journal Article
• Language: English
• Published: 29.09.2022

Leber’s hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mitochondrial DNA (mtDNA) mutations. LHON-linked ND6 14484T > C (p.M64V) mutation affected structural components of complex I but its pathophysiology is poorly understood. The structural analysis of complex I...