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Article

Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy.

Mitochondrion - 1 Jul 2022

Ji Yanchun, Zhang Juanjuan, Liang Min, Meng Feilong, Zhang Minglian, Mo Jun Q, Wang Meng, Guan Min-Xin

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is the maternal inheritance of eye disorder. LHON-linked mitochondrial DNA (mtDNA) mutations affect the ND1, ND4 or ND6 genes encoding essential subunits of complex I. However, the role of mitochondrial tRNA defects in the pathogenesis of LHON is poorly...

Topics

China
DNA, Mitochondrial
Humans
Mutation
NADH Dehydrogenase
Optic Atrophy, Hereditary, Leber
Pedigree
RNA, Transfer

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35623556
DOI: 10.1016/j.mito.2022.05.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-35623556-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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