ArticleBBA clinical2016
Three families with 'de novo' m.3243A > G mutation.
Article in BBA clinical, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- The heart in m.3243A>G carriers.Herz · 2020Pooled it
- Severe mitochondrial cardiomyopathy with m.3303C > T variant in the mitochondrial tRNAMolecular genetics and metabolism reports · 2026Article
- Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.Neurology. Genetics · 2026Article
- Middle-aged woman presenting with new-onset status epilepticus and family history of MELAS syndrome but negative mtDNA testing.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Prevalence and treatment of mitochondrial diabetes in Southwest Finland.Journal of diabetes and metabolic disorders · 2026Article
- Outcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design.Brain communications · 2025Article
- Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.Human molecular genetics · 2024Article
- T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.Life science alliance · 2023Article
- Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review.Diagnostics (Basel, Switzerland) · 2021Article
- The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.Molecular genetics & genomic medicine · 2020Article
- Metabolic effects of bezafibrate in mitochondrial disease.EMBO molecular medicine · 2020Observational
- Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease.PloS one · 2020Article
- mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.EMBO molecular medicine · 2018Article
- Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.Annals of clinical and translational neurology · 2018Article
- Genetic Counselling for Maternally Inherited Mitochondrial Disorders.Molecular diagnosis & therapy · 2017Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A > G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A > G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A > G mutations exist is of relevance for both diagnostic investigations and genetic counselling. Firstly, even where there is no significant (maternal) family history in patients with stroke-like episodes, diabetes and deafness or other unexplained organ dysfunction, the m.3243A > G mutation should be screened as a possible cause of the disease. Second, analysis of maternally-related family members is highly recommended to provide reliable counselling for these families, given that the m.3243A > G mutation may have arisen de novo.
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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.