ArticlePLoS genetics2014
Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.
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Who cites it
83 citing papers in PubMed, 155 citations in OpenAlex.
- Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans.Frontiers in immunology · 2019Trial
- Trial
- Himito: a graph-based toolkit for mitochondrial genome analysis using long reads.Nature communications · 2026Article
- Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients.Annals of Indian Academy of Neurology · 2026Article
- Investigating Potential Biomarkers of Ankylosing Spondylitis: A Study on Mitochondrial and Senescence Pathways Using Machine Learning.Journal of inflammation research · 2025Article
- Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster.Nature communications · 2024Article
- Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.Schizophrenia research · 2024Review
- Mitochondrial function and gastrointestinal diseases.Nature reviews. Gastroenterology & hepatology · 2024Review
- The role of mitochondria in sex- and age-specific gene expression in a species without sex chromosomes.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.Human molecular genetics · 2024Article
- Mother's Curse effects on lifespan and aging.Frontiers in aging · 2024Review
- The role of mitochondria in sex- and age-specific gene expression in a species without sex chromosomes.bioRxiv : the preprint server for biology · 2023Article
- Interaction between mitochondria and microbiota modulating cellular metabolism in inflammatory bowel disease.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population.International journal of bipolar disorders · 2023Article
- The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism.Nature communications · 2023Article
- Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast.Disease models & mechanisms · 2023Article
- First mitochondrial genome-wide association study with metabolomics.Human molecular genetics · 2022Article
- Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors.BMC biology · 2022Article
- Examining the Association between Mitochondrial Genome Variation and Coronary Artery Disease.Genes · 2022Article
- Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk.Mitochondrion · 2022Article
23 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
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 variants would be expected to alter the risk of developing several different disorders, but this has not been shown to date. Here we studied 38,638 individuals with 11 major diseases, and 17,483 healthy controls. Imputing missing variants from 7,729 complete mitochondrial genomes, we captured 40.41% of European mtDNA variation. We show that mtDNA variants modifying the risk of developing one disease also modify the risk of developing other diseases, thus providing independent replication of a disease association in different case and control cohorts. High-risk alleles were more common than protective alleles, indicating that mtDNA is not at equilibrium in the human population, and that recent mutations interact with nuclear loci to modify the risk of developing multiple common diseases.
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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.