ArticleJIMD reports2013
Inheritance of the m.3243A>G mutation.
Article in JIMD reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed.
- A retrospective cohort study evaluating pregnancy outcomes in women with MIDD.Acta diabetologica · 2024Article
- A patient with MELAS syndrome combined with autoimmune abnormalities: a case report.Frontiers in neurology · 2023Article
- A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report.Iranian journal of public health · 2022Article
- Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype.Frontiers in genetics · 2022Review
- Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.Clinical kidney journal · 2019Article
- Darwinian selection within an individual or somatic selection: facts and models.Journal of molecular cell biology · 2019Article
- Genetic Counselling for Maternally Inherited Mitochondrial Disorders.Molecular diagnosis & therapy · 2017Review
- Three families with 'de novo' m.3243A > G mutation.BBA clinical · 2016Article
- Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.Genome research · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The m.3243A>G is the most prevalent pathogenic mtDNA mutation but little is known about its inheritance. We studied 34 families containing 56 mother-child relations and 82 intersibling relations to investigate its transmission. We found a significant correlation between mother and child heteroplasmy levels (r = 0.679, p < 0.001). In mothers with a heteroplasmy level of below 25% we found 30% offspring without detectable mutation, while in mothers with a heteroplasmy level of above 25%, 100% of the offspring showed the m.3243A>G mutation. Heteroplasmy levels between siblings also correlated (r = 0.512, p < ;0.001), but had limited extra predictive value because of outliers. These new data on inheritance of the m.3243A>G mutation might be of value in counseling patients and preventing transmission of the mutation.
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Registered trials
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.