ArticleBiomolecular detection and quantification2017
Quantification of mitochondrial DNA copy number in suspected cancer patients by a well optimized ddPCR method.
Article in Biomolecular detection and quantification, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 88 citations in OpenAlex.
- Associations of rDNA copy numbers and global DNA methylation with myocardial infarction.Frontiers in cardiovascular medicine · 2026Article
- ANO7 expression in the prostate modulates mitochondrial function and lipid metabolism.Cell communication and signaling : CCS · 2025Article
- Lower circulating mitochondrial DNA and increased mitokines suggest significant mitochondrial dysfunction in systemic lupus erythematosus with renal involvement.Lupus science & medicine · 2025Article
- Cytosine methylase and hydroxymethylase activity in mammalian mitochondria.Frontiers in cell and developmental biology · 2025Article
- Simultaneous quantification of rDNA methylation and copy number: Constraints to natural variation in humans and cell lines.PloS one · 2025Article
- Association between mitochondrial DNA copy number and neurodevelopmental outcomes among black and white preterm infants up to two years of age.Interdisciplinary nursing research · 2024Article
- Mitochondria-DNA copy-number in osteoporosis and osteoarthritis among middle-aged women - A population-based cohort study.Osteoarthritis and cartilage open · 2024Article
- Mitochondrial DNA levels in perfusate and bile duringHeliyon · 2024Article
- A method for measuring mitochondrial DNA copy number in pediatric populations.Frontiers in pediatrics · 2024Article
- Review
- The mitochondrial Ahi1/GR participates the regulation on mtDNA copy numbers and brain ATP levels and modulates depressive behaviors in mice.Cell communication and signaling : CCS · 2023Article
- In utero particulate matter exposure in association with newborn mitochondrial ND4LEnvironmental health : a global access science source · 2022Article
- Insights regarding mitochondrial DNA copy number alterations in human cancer (Review).International journal of molecular medicine · 2022Review
- Cell energy metabolism and bone formation.Bone reports · 2022Article
- Mitochondria as the Target of Hepatotoxicity and Drug-Induced Liver Injury: Molecular Mechanisms and Detection Methods.International journal of molecular sciences · 2022Review
- Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.Cancers · 2022Article
- Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS.International journal of molecular sciences · 2022Article
- Baseline mitochondrial DNA copy number and heart failure incidence and its role in overall and heart failure mortality in middle-aged women.Frontiers in cardiovascular medicine · 2022Article
- Article
- Mitochondria-DNA copy-number and incident venous thromboembolism among middle-aged women: a population-based cohort study.Journal of thrombosis and thrombolysis · 2021Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Changes in mitochondrial DNA (mtDNA) content is a useful clinical biomarker for various diseases, however results are controversial as several analytical factors can affect measurement of mtDNA. MtDNA is often quantified by taking ratio between a target mitochondrial gene and a reference nuclear gene (mtDNA/nDNA) using quantitative real time PCR often on two separate experiments. It measures relative levels by using external calibrator which may not be comparable across laboratories. We have developed and optimized a droplet digital PCR (ddPCR) based method for quantification of absolute copy number of both mtDNA and nDNA gene in whole blood. Finally, the role of mtDNA in suspected cancer patients referred to a cancer diagnostic center was investigated. Analytical factors which can result in false quantification of mtDNA have been optimized and both target and reference have been quantified simultaneously with intra- and inter-assay coefficient variances as 3.1% and 4.2% respectively. Quantification of mtDNA show that compared to controls, solid tumors (but not hematologic malignancies) and other diseases had significantly lower copy number of mtDNA. Higher mtDNA (highest quartile) was associated with a significantly lower risk of both solid tumors and other diseases, independent of age and sex. Receiver operating curve demonstrated that mtDNA levels could differentiate controls from patients with solid tumors and other diseases. Quantification of mtDNA by a well optimized ddPCR method showed that its depletion may be a hallmark of general illness and can be used to stratify healthy individuals from patients diagnosed with cancer and other chronic diseases.
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