ArticleJournal of medical genetics2017
De novo mtDNA point mutations are common and have a low recurrence risk.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.Physiological research · 2024Pooled it
- Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.Kidney international reports · 2026Review
- Guanosine 10 methylation by TRMT11-TRMT112 optimizes human mitochondrial tRNAs for efficient translation.Nucleic acids research · 2026Article
- Emerging therapeutic strategies for mitochondrial DNA-related diseases.Cell reports. Medicine · 2026Review
- Mitochondrial disease management through phytochemical interventions.Molecular and cellular biochemistry · 2025Review
- Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.HGG advances · 2025Article
- Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Science China. Life sciences · 2025Review
- Letter to the Editor: Depending on the Disease Stage and Modifying Factors, mtDNA-Associated Hearing Loss Can Occur With Many mtDNA Mutations.Journal of Korean medical science · 2024Article
- Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.European journal of human genetics : EJHG · 2023Article
- Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.Clinical kidney journal · 2023Article
- A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.Neuromuscular disorders : NMD · 2021Article
- Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.Human molecular genetics · 2021Review
- Disease Modeling of Mitochondrial Cardiomyopathy Using Patient-Specific Induced Pluripotent Stem Cells.Biology · 2021Review
- Mitochondrial function in development and disease.Disease models & mechanisms · 2021Review
- Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.International journal of molecular sciences · 2021Review
- A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.Scientific reports · 2021Article
- Fatal perinatal mitochondrial cardiac failure caused by recurrentMed (New York, N.Y.) · 2021Article
- Mitochondrial DNA mutations in renal disease: an overview.Pediatric nephrology (Berlin, Germany) · 2021Review
- Mitochondrial DNA mutation exacerbates female reproductive aging via impairment of the NADH/NADAging cell · 2020Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundSevere, disease-causing germline mitochondrial (mt)DNA mutations are maternally inherited or arise de novo. Strategies to prevent transmission are generally available, but depend on recurrence risks, ranging from high/unpredictable for many familial mtDNA point mutations to very low for sporadic, large-scale single mtDNA deletions. Comprehensive data are lacking for de novo mtDNA point mutations, often leading to misconceptions and incorrect counselling regarding recurrence risk and reproductive options. We aim to study the relevance and recurrence risk of apparently de novo mtDNA point mutations.
methodsSystematic study of prenatal diagnosis (PND) and recurrence of mtDNA point mutations in families with de novo cases, including new and published data. 'De novo' based on the absence of the mutation in multiple (postmitotic) maternal tissues is preferred, but mutations absent in maternal blood only were also included.
resultsIn our series of 105 index patients (33 children and 72 adults) with (likely) pathogenic mtDNA point mutations, the de novo frequency was 24.6%, the majority being paediatric. PND was performed in subsequent pregnancies of mothers of four de novo cases. A fifth mother opted for preimplantation genetic diagnosis because of a coexisting Mendelian genetic disorder. The mtDNA mutation was absent in all four prenatal samples and all 11 oocytes/embryos tested. A literature survey revealed 137 de novo cases, but PND was only performed for 9 (including 1 unpublished) mothers. In one, recurrence occurred in two subsequent pregnancies, presumably due to germline mosaicism.
conclusionsDe novo mtDNA point mutations are a common cause of mtDNA disease. Recurrence risk is low. This is relevant for genetic counselling, particularly for reproductive options. PND can be offered for reassurance.
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