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Article

A twin study of mitochondrial DNA polymorphisms shows that heteroplasmy at multiple sites is associated with mtDNA variant 16093 but not with zygosity.

PloS one - 1 Jan 2011

Andrew Toby, Calloway Cassandra D, Stuart Sarah, Lee Sang Hoon, Gill Raj, Clement Gail, Chowienczyk Philip, Spector Tim D, Valdes Ana M

Abstract excerpt

The mitochondrial theory of ageing proposes that damage to mitochondria and diminished mitochondrial DNA (mtDNA) repair are major contributors to cellular dysfunction and age-related diseases. We investigate the prevalence of heteroplasmy in the mtDNA control region in buccal swab and blood derived samples for 178 women from the TwinsUK cohort (41 DZ pair 39 MZ pairs, 18 singletons, mean age 57.5 range 28-82) and...

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Identifiers

PMID: 21857921
DOI: 10.1371/journal.pone.0022332
PMCID: PMC3153933

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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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