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Article

Mechanism of age-related accumulation of mtDNA mutations in human blood.

Nature - 1 Aug 2026

Gupta Rahul, Durham Timothy J, Chau Grant, Kanai Masahiro, Uddin Md Mesbah, Lu Wenhan, Argentieri M Austin, Karczewski Konrad J, Howrigan Daniel, Natarajan Pradeep, Zhou Wei, Neale Benjamin M, Mootha Vamsi K

Abstract excerpt

Accumulation of mutant mitochondrial DNA (mtDNA) heteroplasmy is among the strongest signatures of ageing1. Here we investigated the underlying mechanism by calling mtDNA sequence, mtDNA abundance and mtDNA heteroplasmic variants in human blood using whole-genome sequences from approximately 750,000 individuals. We observed that mtDNA single-nucleotide variants (mtSNVs) accumulate sharply at age 60 years, occur...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42203880
DOI: 10.1038/s41586-026-10569-6
PMCID: PMC13441879

Genes

TERT
SMC4
TCL1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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