Evidence map›Paper›PMID 42062290›Full record

ArticleNature communications2026

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

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

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Eleonora CentaniniDepartment of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.
Oliver PainMaurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0001-5680-3281
Patrick F ChinneryDepartment of Clinical Neuroscience & Medical Research Council Mitochondrial Biology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-7065-6617
Alan HodgkinsonDepartment of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK. alan.hodgkinson@kcl.ac.uk.ORCID http://orcid.org/0000-0003-1636-491X

Funding

LifeArc 10748RCUK | Biotechnology and Biological Sciences Research Council (BBSRC) BB/R006075/1RCUK | Biotechnology and Biological Sciences Research Council (BBSRC) BB/T008709/1RCUK | Biotechnology and Biological Sciences Research Council (BBSRC) BB/Y003209/1RCUK | Medical Research Council (MRC) MC_UU_00028/7Rosetrees Trust PGL23/100048Wellcome Trust (Wellcome) 222811/Z/21/ZWellcome Trust (Wellcome) 224486/Z/21/ZWellcome Trust (Wellcome) 226653/Z/22/Z
6 · The paper itself

Abstract

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 transcript abundance, revealing gene- and tissue-specific regulatory architectures. We then develop tissue-specific genetic scores to predict mtDNA transcript levels and validate them in independent datasets. Applying these scores to 377,439 UK Biobank participants reveals significant associations between predicted mtDNA transcript abundance and multiple common diseases and quantitative traits, many showing marked tissue specificity, including associations with hypertension and Parkinson's disease in biologically relevant tissues. These findings provide genetic evidence that variation in mtDNA transcriptional processes contributes to complex disease biology and highlight mitochondrial RNA processing as a compelling therapeutic target.

Indexed as

Cell NucleusMitochondriaRNA, MitochondrialRNA Processing, Post-TranscriptionalDNA, MitochondrialGenetic Predisposition to DiseaseGenetic VariationHumansHypertensionOrgan SpecificityParkinson DiseaseUK BiobankDNA, MitochondrialRNA, Mitochondrial

Identifiers

PMID42062290
PMCPMC13338043

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.