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Article

Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation.

Journal of biomedical science - 3 Aug 2023

Wang Jing, Ji Yanchun, Ai Cheng, Chen Jia-Rong, Gan Dingyi, Zhang Juanjuan, Mo Jun Q, Guan Min-Xin

Abstract excerpt

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mutations in mitochondrial DNA. However, there is no effective treatment for this disease. LHON-linked ND6 14484T > C (p.M64V) mutation caused complex I deficiency, diminished ATP production, increased production of reactive oxygen species (ROS), elevated apoptosis, and impaired mitophagy. Here, we investigated if...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37537557
DOI: 10.1186/s12929-023-00951-1
PMCID: PMC10399063

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

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