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Article

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases.

PLoS genetics - 1 May 2014

Hudson Gavin, Gomez-Duran Aurora, Wilson Ian J, Chinnery Patrick F

Abstract excerpt

Mitochondrial DNA (mtDNA) is highly polymorphic at the population level, and specific mtDNA variants affect mitochondrial function. With emerging evidence that mitochondrial mechanisms are central to common human diseases, it is plausible that mtDNA variants contribute to the "missing heritability" of several complex traits. Given the central role of mtDNA genes in oxidative phosphorylation, the same genetic...

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Identifiers

PMID: 24852434
DOI: 10.1371/journal.pgen.1004369
PMCID: PMC4031051

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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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