Article
Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
Human molecular genetics - 20 Apr 2023
Chen Jia-Rong, Chen Chao, Chen Jie, Ji Yanchun, Lian Yanna, Zhang Juanjuan, Yu Jialing, Li Xiang-Yao, Qu Jia, Guan Min-Xin
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted eye disease due to the degeneration of retinal ganglion cells (RGCs). Mitochondrial 11778G > A mutation is the most common LHON-associated mitochondrial DNA (mtDNA) mutation. Our recent studies demonstrated some LHON families manifested by synergic interaction between m.11778G > A mutation and YARS2 allele (c.572G > T, p.Gly191Val) encoding...
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