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Article

Optic neuropathy arising from the synergy between YARS2 and mitochondrial COX1 mutations.

Journal of genetics and genomics = Yi chuan xue bao - 1 Jul 2026

Li Huiying, Ai Cheng, Jin Xiaofen, Wang Jing, Yu Jun, Gao Yinglong, Wallace Douglas C, Guan Min-Xin

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy. Here, we investigate the mechanism underlying the interaction between nuclear modifier and mtDNA mutation(s) that manifests optic neuropathy in vivo to develop an effective therapeutic approach for this disease, using mouse models bearing LHON-linked Yars2G186V or COIV421A mutation alone and double mutations. Yars2G186V alters...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophy, Hereditary, Leber

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Source

Identifiers

PMID: 41666992
DOI: 10.1016/j.jgg.2026.02.003

Genes

YARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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