ArticleJournal of medical genetics2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Article in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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54 citing papers in PubMed, 189 citations in OpenAlex.
- Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation.CNS neuroscience & therapeutics · 2026Article
- Label-free robotic mitochondrial biopsy.Science advances · 2025Article
- Ndufs4GeroScience · 2025Review
- Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected children.Mitochondrion · 2024Article
- Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons.BMC biology · 2024Article
- Single-Mitochondrion Sequencing Uncovers Distinct Mutational Patterns and Heteroplasmy Landscape in Mouse Astrocytes and Neurons.bioRxiv : the preprint server for biology · 2024Article
- Primary mitochondrial disorders and mimics: Insights from a large French cohort.Annals of clinical and translational neurology · 2024Article
- Frequencies and spectra of aflatoxin BNAR molecular medicine · 2024Article
- Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.Circulation. Genomic and precision medicine · 2023Article
- Mitochondrial genome study in blood of maternally inherited ALS cases.Human genomics · 2023Article
- Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism.Scientific reports · 2023Article
- Acarbose suppresses symptoms of mitochondrial disease in a mouse model of Leigh syndrome.Nature metabolism · 2023Article
- A small protein coded within the mitochondrial canonical gene nd4 regulates mitochondrial bioenergetics.BMC biology · 2023Article
- Modeling mitochondrial DNA diseases: from base editing to pluripotent stem-cell-derived organoids.EMBO reports · 2023Review
- Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).PloS one · 2023Article
- Article
- Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial DiseasesBalkan medical journal · 2022Article
- Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.Current issues in molecular biology · 2022Review
- Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.Frontiers in genetics · 2022Article
- The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.Stem cell reports · 2021Article
Corrections and comments
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Authors and funding
37 authors at 20 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of cases, depending on the study. However, the prevalence of rare mtDNA mutations is not known.
methodsWe analysed the whole mtDNA in a cohort of 743 patients suspected of manifesting a mitochondrial disease, after excluding deletions and common mutations. Both heteroplasmic and homoplasmic variants were identified using two complementary strategies (Surveyor and MitoChip). Multiple correspondence analyses followed by hierarchical ascendant cluster process were used to explore relationships between clinical spectrum, age at onset and localisation of mutations.
results7.4% of deleterious mutations and 22.4% of novel putative mutations were identified. Pathogenic heteroplasmic mutations were more frequent than homoplasmic mutations (4.6% vs 2.8%). Patients carrying deleterious mutations showed symptoms before 16 years of age in 67% of cases. Early onset disease (<1 year) was significantly associated with mutations in protein coding genes (mainly in complex I) while late onset disorders (>16 years) were associated with mutations in tRNA genes. MTND5 and MTND6 genes were identified as 'hotspots' of mutations, with Leigh syndrome accounting for the large majority of associated phenotypes.
conclusionsRare mitochondrial DNA mutations probably account for more than 7.4% of patients with respiratory chain deficiency. This study shows that a comprehensive analysis of mtDNA is essential, and should include young children, for an accurate diagnosis that is now accessible with the development of next generation sequencing technology.
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