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Article

MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction.

Journal of medical genetics - 1 Jan 2022

Ji Kunqian, Lin Yan, Xu Xuebi, Wang Wei, Wang Dongdong, Zhang Chen, Li Wei, Zhao Yuying, Yan Chuanzhu

Abstract excerpt

BACKGROUND: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode (MELAS) is a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. The causative mutations of MELAS have drawn much attention, among them, mutations in mitochondrial tRNA genes possessing prominent status. However, the detailed molecular pathogenesis of these tRNA gene mutations remains unclear...

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Identifiers

PMID: 33208382
DOI: 10.1136/jmedgenet-2020-107323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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