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Article

Impaired mitochondrial morphology and respiratory dysfunction in human induced pluripotent stem cells with mitochondrial tRNA mutations (m.3243A>G and m.14739G>A).

Orphanet journal of rare diseases - 29 Jan 2026

Meshrkey Fibi, Scheulin Kelly M, Saikia Bibhuti, Stabach Joshua, Rao Raj R, West Franklin D, Iyer Shilpa

Abstract excerpt

BACKGROUND: Mitochondrial DNA (mtDNA) mutations contribute to respiratory dysfunction and cause mitochondrial diseases. The pathologies of these multisystemic inherited diseases are poorly understood. Mutations in the mitochondrial tRNA gene are one of the most frequent mtDNA mutations and are associated with various clinical symptoms such as diabetes mellitus, hearing loss, cardiomyopathy, exercise intolerance,...

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Share to DNA, Mitochondrial
Share to TRA gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41612437
DOI: 10.1186/s13023-026-04201-z
PMCID: PMC12924315

Genes

TRA
NANOG
POU5F1
SOX2

Provenance

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

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