ArticleHuman molecular genetics2014
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Advances in Management of Mitochondrial Myopathies.International journal of molecular sciences · 2025Review
- Mapping mitochondrial morphology and function: COX-SBFSEM reveals patterns in mitochondrial disease.Communications biology · 2025Article
- Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.Frontiers in pharmacology · 2025Article
- Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.Orphanet journal of rare diseases · 2024Article
- Dissecting the sequential evolution of a selfish mitochondrial genome in Caenorhabditis elegans.Heredity · 2024Article
- Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues.Scientific reports · 2024Article
- Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.The Biochemical journal · 2024Review
- Stochastic survival of the densest and mitochondrial DNA clonal expansion in aging.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Mitochondrial Dysfunction as an Underlying Cause of Skeletal Muscle Disorders.International journal of molecular sciences · 2022Review
- Biallelic Variants inCells · 2022Article
- Cellular mechanisms of mtDNA heteroplasmy dynamics.Critical reviews in biochemistry and molecular biology · 2021Review
- Unbiased PCR-free spatio-temporal mapping of the mtDNA mutation spectrum reveals brain region-specific responses to replication instability.BMC biology · 2020Article
- The rise and rise of mitochondrial DNA mutations.Open biology · 2020Review
- The conflict within: origin, proliferation and persistence of a spontaneously arising selfish mitochondrial genome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.Nucleic acids research · 2019Article
- Diagnosis and Treatment of Mitochondrial Myopathies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.Scientific reports · 2018Article
- Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.Annals of neurology · 2018Article
- Article
- Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Large-scale mitochondrial DNA (mtDNA) deletions are an important cause of mitochondrial disease, while somatic mtDNA deletions cause focal respiratory chain deficiency associated with ageing and neurodegenerative disorders. As mtDNA deletions only cause cellular pathology at high levels of mtDNA heteroplasmy, an mtDNA deletion must accumulate to levels which can result in biochemical dysfunction-a process known as clonal expansion. A number of hypotheses have been proposed for clonal expansion of mtDNA deletions, including a replicative advantage for deleted mitochondrial genomes inferred by their smaller size--implying that the largest mtDNA deletions would also display a replicative advantage over smaller mtDNA deletions. We proposed that in muscle fibres from patients with mtDNA maintenance disorders, which lead to the accumulation of multiple mtDNA deletions, we would observe the largest mtDNA deletions spreading the furthest longitudinally through individual muscle fibres by means of a greater rate of clonal expansion. We characterized mtDNA deletions in patients with mtDNA maintenance disorders from a range of 'large' and 'small' cytochrome c oxidase (COX)-deficient regions in skeletal muscle fibres. We measured the size of clonally expanded deletions in 62 small and 60 large individual COX-deficient f regions. No significant difference was observed in individual patients or in the total dataset (small fibre regions mean 6.59 kb--large fibre regions mean 6.51 kb). Thus no difference existed in the rate of clonal expansion throughout muscle fibres between mtDNA deletions of different sizes; smaller mitochondrial genomes therefore do not appear to have an inherent replicative advantage in human muscle.
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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.