ArticleGenetics and molecular biology2020
Maternal transmission of mitochondrial diseases.
Article in Genetics and molecular biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Pooled it
- Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.Archives of toxicology · 2026Review
- Effects of Combined Exercise Training on Modulating Fine Particulate Matter-Induced Skeletal Muscle Damage in Offspring Gestationally Exposed.Journal of cachexia, sarcopenia and muscle · 2025Article
- The recurrent p.Glu3Lys variant inMolecular genetics and metabolism reports · 2025Article
- The mechanism of oxidative stress in asthenozoospermia and antioxidant strategies: a review.Frontiers in endocrinology · 2025Review
- Review
- The Roles of Mitochondria in Human Being's Life and Aging.Biomolecules · 2024Review
- Beyond acute infection: molecular mechanisms underpinning cardiovascular complications in long COVID.Frontiers in cardiovascular medicine · 2024Review
- Unleashing the potential of CRISPR multiplexing: Harnessing Cas12 and Cas13 for precise gene modulation in eye diseases.Vision research · 2023Review
- Creation of Mitochondrial Disease Models Using Mitochondrial DNA Editing.Biomedicines · 2023Review
- HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation.Life (Basel, Switzerland) · 2021Article
- Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications.Nature reviews. Genetics · 2021Article
- [A non-invasive method for detecting mitochondrial tRNANan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- Germline transmission of donor, maternal and paternal mtDNA in primates.Human reproduction (Oxford, England) · 2021Article
- A versatile toolkit for CRISPR-Cas13-based RNA manipulation in Drosophila.Genome biology · 2020Article
- The Role of Mitochondria in Cardiovascular Diseases.Biology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Given the major role of the mitochondrion in cellular homeostasis, dysfunctions of this organelle may lead to several common diseases in humans. Among these, maternal diseases linked to mitochondrial DNA (mtDNA) mutations are of special interest due to the unclear pattern of mitochondrial inheritance. Multiple copies of mtDNA are present in a cell, each encoding for 37 genes essential for mitochondrial function. In cases of mtDNA mutations, mitochondrial malfunctioning relies on mutation load, as mutant and wild-type molecules may co-exist within the cell. Since the mutation load associated with disease manifestation varies for different mutations and tissues, it is hard to predict the progeny phenotype based on mutation load in the progenitor. In addition, poorly understood mechanisms act in the female germline to prevent the accumulation of deleterious mtDNA in the following generations. In this review, we outline basic aspects of mitochondrial inheritance in mammals and how they may lead to maternally-inherited diseases. Furthermore, we discuss potential therapeutic strategies for these diseases, which may be used in the future to prevent their transmission.
Identifiers
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.