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Article

Nuclear genetic modulation of tissue-specific mitochondrial RNA processing contributes to common disease risk.

Nature communications - 30 Apr 2026

Centanini Eleonora, Pain Oliver, Chinnery Patrick F, Hodgkinson Alan

Abstract excerpt

Mitochondrial dysfunction is widely implicated in human disease, yet whether it plays a causal role and why effects are tissue-specific remain unclear. Here, we analyse over 15,000 RNA-sequencing datasets from 49 tissue types integrated with germline genetic data to investigate the impact of mitochondrial DNA (mtDNA) transcription on disease risk. We identify 25 nuclear genetic variants associated with mtDNA...

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Identifiers

PMID: 42062290
DOI: 10.1038/s41467-026-72649-5
PMCID: PMC13338043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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