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Mitochondrial tRNAGlu 14693A > G Mutation, an "Enhancer" to the Phenotypic Expression of Leber's Hereditary Optic Neuropathy.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) - 1 Nov 2024

Jin Lihao, Gan Dingyi, He Wentao, Wu Na, Xiang Shuchenlu, Wei Yinsheng, Eriani Gilbert, Ji Yanchun, Guan Min-Xin, Wang Meng

Abstract excerpt

Leber's hereditary optic neuropathy (LHON), a maternally inherited ocular disease, is predominantly caused by mitochondrial DNA (mtDNA) mutations. Mitochondrial tRNA variants are hypothesized to amplify the pathogenic impact of three primary mutations. However, the exact mechanisms remained unclear. In the present study, the synergistic effect of the tRNAGlu 14693A > G and ND6 14484T > C mutations in three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39264244
DOI: 10.1002/advs.202401856
PMCID: PMC11538713

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Mitochondrial tRNAGlu 14693A > G Mutation, an "Enhancer" to the Phenotypic Expression of Leber's Hereditary Optic Neuropathy.PMID 39264244Read ↗

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The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Semantic proximity Read ↗

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Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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