ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 58 citations in OpenAlex.
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Review
- The nuclear and mitochondrial genomes need to tango. How is their dance synchronized during development?NAR molecular medicine · 2026Article
- Genetic Testing for Monogenic Stroke.Stroke · 2024Article
- Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms.Molecular neurobiology · 2024Review
- Maternal mitochondrial function affects paternal mitochondrial inheritance in Drosophila.Genetics · 2024Article
- Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.African journal of laboratory medicine · 2024Article
- Correction of a homoplasmic mitochondrial tRNA mutation in patient-derived iPSCs via a mitochondrial base editor.Communications biology · 2023Article
- Review
- Gender Differences in Oxidative Stress in Relation to Cancer Susceptibility and Survival.Antioxidants (Basel, Switzerland) · 2023Review
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes.Membranes · 2022Review
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Failure to Guard: Mitochondrial Protein Quality Control in Cancer.International journal of molecular sciences · 2021Review
- Biparental inheritance of mitochondrial DNA revisited.Nature reviews. Genetics · 2021Article
- Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?International journal of molecular sciences · 2021Review
- Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.Human mutation · 2020Article
- Sex differences in renal mitochondrial function: a hormone-gous opportunity for research.American journal of physiology. Renal physiology · 2020Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeA recent report has raised the possibility of biparental mitochondrial DNA (mtDNA) inheritance, which could lead to concerns by health-care professionals and patients regarding investigations and genetic counseling of families with pathogenic mitochondrial DNA variants. Our aim was to examine the frequency of this phenomenon by investigating a cohort of patients with suspected mitochondrial disease.
methodsWe studied genome sequencing (GS) data of DNA extracted from blood samples of 41 pediatric patients with suspected mitochondrial disease and their parents.
resultsAll of the mtDNA variants in the probands segregated with their mother or were apparently de novo. There were no variants that segregated only with the father and none of these families showed evidence of biparental inheritance of their mtDNA.
conclusionPaternal mitochondrial transmission is unlikely to be a common occurrence and therefore at this point we would not recommend changes in clinical practice.
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