ArticleScientific reports2016
Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 85 citations in OpenAlex.
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- Development and Validation of a Droplet Digital PCR Assay for Detection of Feline Herpesvirus Type-1.Veterinary sciences · 2025Article
- TRAF6 integrates innate immune signals to regulate glucose homeostasis via Parkin-dependent and Parkin-independent mitophagy.Science advances · 2025Article
- Using Digital PCR to Unravel the Occurrence of Piroplasmids,Pathogens (Basel, Switzerland) · 2025Article
- Mitochondrial damage in muscle specific PolG mutant mice activates the integrated stress response and disrupts the mitochondrial folate cycle.Nature communications · 2025Article
- Mitochondrial DNA common deletion in cancer: Emerging evidence and methodological challenges.Computational and structural biotechnology journal · 2025Review
- Development of a triplex crystal digital PCR for the detection of PRCoV, PRRSV, and SIV.Frontiers in veterinary science · 2025Article
- Mitochondrial DNA Deletion Mutations: A Molecular Cause of Age-Induced Skeletal Muscle Fiber Dysfunction and Fiber Death Contributing to Sarcopenia.Advances in experimental medicine and biology · 2025Review
- Application of Second-Generation Sequencing Technology in Lower Respiratory Tract Infection.Journal of clinical laboratory analysis · 2024Review
- Common mitochondrial deletions in RNA-Seq: evaluation of bulk, single-cell, and spatial transcriptomic datasets.Communications biology · 2024Article
- Cell-free DNA levels associate with COPD exacerbations and mortality.Respiratory research · 2024Article
- Development of a triplex crystal digital RT-PCR for the detection of PHEV, PRV, and CSFV.Frontiers in veterinary science · 2024Article
- Detection and Quantification of Klebsiella pneumoniae in Fecal Samples Using Digital Droplet PCR in Comparison with Real-Time PCR.Microbiology spectrum · 2023Article
- OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.Communications biology · 2023Article
- A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.Scientific data · 2022Article
- Quantitative monitoring of experimental and human leishmaniasis employing amastigote-specific genes.Parasitology · 2022Article
- A novel ND1 mitochondrial DNA mutation is maternally inherited in growth hormone transgenesis in amago salmon (Oncorhynchus masou ishikawae).Scientific reports · 2022Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
Abstract
Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated in a broad collection of conditions, including aging, neurodegeneration, and cancer. Prevalent among these pathogenic variants are mtDNA deletions, which show a strong bias for the loss of sequence in the major arc between, but not including, the heavy and light strand origins of replication. Because individual mtDNA deletions can accumulate focally, occur with multiple mixed breakpoints, and in the presence of normal mtDNA sequences, methods that detect broad-spectrum mutations with enhanced sensitivity and limited costs have both research and clinical applications. In this study, we evaluated semi-quantitative and digital PCR-based methods of mtDNA deletion detection using double-stranded reference templates or biological samples. Our aim was to describe key experimental assay parameters that will enable the analysis of low levels or small differences in mtDNA deletion load during disease progression, with limited false-positive detection. We determined that the digital PCR method significantly improved mtDNA deletion detection sensitivity through absolute quantitation, improved precision and reduced assay standard error.
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