ArticleNucleic acids research2016
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.
Article in Nucleic acids research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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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
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Muscle Sonography in Inclusion Body Myositis: A Systematic Review and Meta-Analysis of 944 Measurements.Cells · 2022Pooled it
- Exercise as a Programmable Regulator of Mitophagy Sensitivity in Aging Muscle and Age-Related Disease.IUBMB life · 2026Review
- Energy metabolism dysregulation in idiopathic inflammatory myopathies: mechanisms and therapeutic implications.Frontiers in immunology · 2026Review
- Bayesian classification of OXPHOS deficient skeletal myofibres.PLoS computational biology · 2025Article
- Aging through the lens of mitochondrial DNA mutations and inheritance paradoxes.Biogerontology · 2024Review
- Current biomarkers in inclusion body myositis.Journal of neuromuscular diseases · 2024Review
- Quantitative whole-body muscle MRI in idiopathic inflammatory myopathies including polymyositis with mitochondrial pathology: indications for a disease spectrum.Journal of neurology · 2024Article
- Mitochondrial defects in sporadic inclusion body myositis-causes and consequences.Frontiers in cell and developmental biology · 2024Review
- Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy.The Biochemical journal · 2023Review
- Inclusion body myositis: from genetics to clinical trials.Journal of neurology · 2023Review
- Single Cell Analysis of Mitochondrial DNA Deletions.Methods in molecular biology (Clifton, N.J.) · 2023Article
- The emergent role of mitochondrial surveillance in cellular health.Aging cell · 2022Review
- The Genetics of Autoimmune Myositis.Frontiers in immunology · 2022Review
- Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA.Mitochondrion · 2021Article
- Applying genomic and transcriptomic advances to mitochondrial medicine.Nature reviews. Neurology · 2021Review
- Detection of high heteroplasmy in complete loggerhead and hawksbill sea turtles mitochondrial genomes using RNAseq.Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis · 2021Article
- Thermodynamic analysis of DNA hybridization signatures near mitochondrial DNA deletion breakpoints.iScience · 2021Article
- The rise and rise of mitochondrial DNA mutations.Open biology · 2020Review
- Mitochondrial dysfunction underlying sporadic inclusion body myositis is ameliorated by the mitochondrial homing drug MA-5.PloS one · 2020Article
- Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.Nucleic acids research · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Mitochondrial DNA (mtDNA) rearrangements are an important cause of mitochondrial disease and age related mitochondrial dysfunction in tissues including brain and skeletal muscle. It is known that different mtDNA deletions accumulate in single cells, but the detailed nature of these rearrangements is still unknown. To evaluate this we used a complementary set of sensitive assays to explore the mtDNA rearrangements in individual cells from patients with sporadic inclusion body myositis, a late-onset inflammatory myopathy with prominent mitochondrial changes. We identified large-scale mtDNA deletions in individual muscle fibres with 20% of cytochrome c oxidase-deficient myofibres accumulating two or more mtDNA deletions. The majority of deletions removed only the major arc but ∼10% of all deletions extended into the minor arc removing the origin of light strand replication (OL) and a variable number of genes. Some mtDNA molecules contained two deletion sites. Additionally, we found evidence of mitochondrial genome duplications allowing replication and clonal expansion of these complex rearranged molecules. The extended spectrum of mtDNA rearrangements in single cells provides insight into the process of clonal expansion which is fundamental to our understanding of the role of mtDNA mutations in ageing and disease.
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