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Article

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability.

Journal of the American Heart Association - 1 Oct 2012

Chen Le, Liu Tingting, Tran Alice, Lu Xiyuan, Tomilov Alexey A, Davies Vanessa, Cortopassi Gino, Chiamvimonvat Nipavan, Bers Donald M, Votruba Marcela, Knowlton Anne A

Abstract excerpt

BACKGROUND: Mitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot-Marie-Tooth disease and dominant optic atrophy. Previously we reported that the fusion protein optic atrophy 1 (OPA1) is decreased in heart failure. METHODS AND RESULTS: We investigated cardiac function, mitochondrial function, and mtDNA stability in a mouse model of the disease with OPA1 mutation. The...

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Identifiers

PMID: 23316298
DOI: 10.1161/JAHA.112.003012
PMCID: PMC3541627

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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