ArticleScientific reports2015
Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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
21 citing papers in PubMed, 43 citations in OpenAlex.
- Distinct DNA hydroxymethylation landscape and mitochondrial DNA rearrangement signatures induced by single- and multi-fraction alpha particle radiation in lung fibroblasts.Environmental epigenetics · 2026Article
- Quantifying variability of mitochondrial markers in m3243A > G myopathy.Scientific reports · 2025Article
- POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.Cerebellum (London, England) · 2024Review
- MtDNA deletions and aging.Frontiers in aging · 2024Review
- Correlation between plasma ccfDNA, mtDNA changes, CTCs, and epithelial-mesenchymal transition in breast cancer patients undergoing NACT.Turkish journal of medical sciences · 2024Article
- Single Cell Analysis of Mitochondrial DNA Deletions.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.Brain : a journal of neurology · 2020Article
- Thinking outside the nucleus: Mitochondrial DNA copy number in health and disease.Mitochondrion · 2020Review
- Technological advances and computational approaches for alternative splicing analysis in single cells.Computational and structural biotechnology journal · 2020Review
- Mitochondrial DNA Manipulations Affect Tau Oligomerization.Journal of Alzheimer's disease : JAD · 2020Article
- Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.Nucleic acids research · 2019Article
- Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.The Journal of pathology · 2018Article
- Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.Annals of neurology · 2018Article
- Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.Neuromuscular disorders : NMD · 2018Article
- Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.Annals of neurology · 2018Article
- Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.Scientific reports · 2017Article
- Mitochondrial dysfunction in myofibrillar myopathy.Neuromuscular disorders : NMD · 2016Article
- Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.Nucleic acids research · 2016Article
- Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons.Annals of neurology · 2016Article
- Mitochondria in the Aging Muscles of Flies and Mice: New Perspectives for Old Characters.Oxidative medicine and cellular longevity · 2016Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Mitochondrial DNA (mtDNA) mutations are commonly found in the skeletal muscle of patients with mitochondrial disease, inflammatory myopathies and sarcopenia. The majority of these mutations are mtDNA deletions, which accumulate to high levels in individual muscle fibres causing a respiratory defect. Most mtDNA deletions are major arc deletions with breakpoints located between the origin of light strand (OL) and heavy strand (OH) replication within the major arc. However, under certain disease conditions, rarer, minor arc deletions are detected. Currently, there are few techniques which would allow the detection and quantification of both types of mtDNA deletions in single muscle fibres. We have designed a novel triplex real-time PCR assay which simultaneously amplifies the MT-ND4 gene in the major arc, the MT-ND1 gene in the minor arc, and the non-coding D-Loop region. We demonstrate that this assay is a highly sensitive and reliable tool for the detection and quantification of a broad range of major and minor arc mtDNA deletions with the potential to investigate the molecular pathogenesis in both research and diagnostic settings.
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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.