ArticlePLoS genetics2017
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
- Single-molecule DNA analysis implicates brain mitochondria pathology in bipolar disorder.Molecular psychiatry · 2025Article
- Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.American journal of human genetics · 2025Article
- Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort.Molecular biology reports · 2025Article
- Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.Annals of clinical and translational neurology · 2025Article
- Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.Muscle & nerve · 2024Article
- mtDNA "nomenclutter" and its consequences on the interpretation of genetic data.BMC ecology and evolution · 2024Article
- Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.EMBO reports · 2023Article
- Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer.Journal of translational medicine · 2023Article
- Profiling mitochondrial DNA mutations in tumors and circulating extracellular vesicles of triple-negative breast cancer patients for potential biomarker development.FASEB bioAdvances · 2023Article
- Association of mitochondrial DNA variation with high myopia in a Han Chinese population.Molecular genetics and genomics : MGG · 2023Article
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.Life (Basel, Switzerland) · 2022Article
- The human mitochondrial genome contains a second light strand promoter.Molecular cell · 2022Article
- Human clinical mutations in mitochondrially encoded subunits of Complex I can be successfully modeled in E. coli.Mitochondrion · 2022Article
- Genetic Diversity, Heteroplasmy, and Recombination in Mitochondrial Genomes of Daphnia pulex, Daphnia pulicaria, and Daphnia obtusa.Molecular biology and evolution · 2022Article
- Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.PLoS genetics · 2022Article
- Scinderin promotes fusion of electron transport chain dysfunctional muscle stem cells with myofibers.Nature aging · 2022Article
- Mitochondrial DNA variation in Parkinson's disease: Analysis of "out-of-place" population variants as a risk factor.Frontiers in aging neuroscience · 2022Article
- Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex.Frontiers in genetics · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
Abstract
Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with a background mtDNA haplogroup, but it is not clear whether this is limited to a handful of examples or is a more general phenomenon. To address this, we determined the characteristics of 30,506 mtDNA sequences sampled globally. After performing several quality control steps, we ascribed an established pathogenicity score to the major alleles for each sequence. The mean pathogenicity score for known disease-causing mutations was significantly different between mtDNA macro-haplogroups. Several mutations were observed across all haplogroup backgrounds, whereas others were only observed on specific clades. In some instances this reflected a founder effect, but in others, the mutation recurred but only within the same phylogenetic cluster. Sequence diversity estimates showed that disease-causing mutations were more frequent on young sequences, and genomes with two or more disease-causing mutations were more common than expected by chance. These findings implicate the mtDNA background more generally in recurrent mutation events that have been purified through natural selection in older populations. This provides an explanation for the low frequency of mtDNA disease reported in specific ethnic groups.
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