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Article

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.

PLoS genetics - 1 Apr 2022

Calabrese Claudia, Pyle Angela, Griffin Helen, Coxhead Jonathan, Hussain Rafiqul, Braund Peter S, Li Linxin, Burgess Annette, Munroe Patricia B, Little Louis, Warren Helen R, Cabrera Claudia, Hall Alistair, Caulfield Mark J, Rothwell Peter M, Samani Nilesh J, Hudson Gavin, Chinnery Patrick F

Abstract excerpt

Mitochondria are implicated in the pathogenesis of cardiovascular diseases (CVDs) but the reasons for this are not well understood. Maternally-inherited population variants of mitochondrial DNA (mtDNA) which affect all mtDNA molecules (homoplasmic) are associated with cardiometabolic traits and the risk of developing cardiovascular disease. However, it is not known whether mtDNA mutations only affecting a...

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Identifiers

PMID: 35363781
DOI: 10.1371/journal.pgen.1010068
PMCID: PMC9007378

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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