ReviewPLoS genetics2010
Transmission of mitochondrial DNA diseases and ways to prevent them.
Review in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 91 citations in OpenAlex.
- Article
- Modulating Mitochondrial DNA Heteroplasmy with Mitochondrially Targeted Endonucleases.Annals of biomedical engineering · 2024Review
- Article
- The role of mitophagy during oocyte aging in human, mouse, and Drosophila: implications for oocyte quality and mitochondrial disease.Reproduction & fertility · 2021Review
- Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues.PLoS biology · 2020Article
- Maternal transmission of mitochondrial diseases.Genetics and molecular biology · 2020Article
- Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.Development, growth & differentiation · 2018Review
- Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.Molecular syndromology · 2016Review
- Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes.Cell stem cell · 2016Article
- Mitochondrial disease in adults: what's old and what's new?EMBO molecular medicine · 2015Review
- Social and ethical issues in mitochondrial donation.British medical bulletin · 2015Review
- Article
- Mitochondrial DNA disease and developmental implications for reproductive strategies.Molecular human reproduction · 2015Review
- Mitochondrial disorders: challenges in diagnosis & treatment.The Indian journal of medical research · 2015Review
- Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage.Cell reports · 2014Article
- Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.BMC genetics · 2014Article
- Harnessing the stem cell potential: the path to prevent mitochondrial disease.Nature medicine · 2013Article
- Twin Mitochondrial Sequence Analysis.Molecular genetics & genomic medicine · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Recent reports of strong selection of mitochondrial DNA (mtDNA) during transmission in animal models of mtDNA disease, and of nuclear transfer in both animal models and humans, have important scientific implications. These are directly applicable to the genetic management of mtDNA disease. The risk that a mitochondrial disorder will be transmitted is difficult to estimate due to heteroplasmy-the existence of normal and mutant mtDNA in the same individual, tissue, or cell. In addition, the mtDNA bottleneck during oogenesis frequently results in dramatic and unpredictable inter-generational fluctuations in the proportions of mutant and wild-type mtDNA. Pre-implantation genetic diagnosis (PGD) for mtDNA disease enables embryos produced by in vitro fertilization (IVF) to be screened for mtDNA mutations. Embryos determined to be at low risk (i.e., those having low mutant mtDNA load) can be preferentially transferred to the uterus with the aim of initiating unaffected pregnancies. New evidence that some types of deleterious mtDNA mutations are eliminated within a few generations suggests that women undergoing PGD have a reasonable chance of generating embryos with a lower mutant load than their own. While nuclear transfer may become an alternative approach in future, there might be more difficulties, ethical as well as technical. This Review outlines the implications of recent advances for genetic management of these potentially devastating disorders.
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What OpenQuestion holds
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.