ArticleFrontiers in pediatrics2024
A method for measuring mitochondrial DNA copy number in pediatric populations.
Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Small molecules rescue pathogenic POLGA aggregation and restore its functions in a mouse model of PEO.EMBO molecular medicine · 2026Article
- 25-Hydroxyvitamin DScientific reports · 2026Article
- Mitochondrial Adaptations Underlying Tetraploidization in Human Cancer, Fungal, and Yeast Models.Biology · 2026Article
- Telomere Length and Mitochondrial Copy Number as Potential Biomarkers for Male Infertility in Iraqi Men.Genes · 2025Article
- Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber's hereditary optic neuropathy patient-derived fibroblasts.Human molecular genetics · 2025Article
- Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance.World journal of methodology · 2025Review
- Rapid and Economic Baculovirus Titer Determination Using a Novel Transgenic Sf9-QE Cell Line.Insects · 2025Article
- The Association Between Periodontal Inflamed Surface Area (PISA), Inflammatory Biomarkers, and Mitochondrial DNA Copy Number.Journal of clinical medicine · 2024Article
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Authors and funding
10 authors.
Funding
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Abstract
The mitochondrion is a multifunctional organelle that modulates multiple systems critical for homeostasis during pathophysiological stress. Variation in mitochondrial DNA (mtDNA) copy number (mtDNAcn), a key mitochondrial change associated with chronic stress, is an emerging biomarker for disease pathology and progression. mtDNAcn can be quantified from whole blood samples using qPCR to determine the ratio of mtDNA to nuclear DNA. However, the collection of blood samples in pediatric populations, particularly in infants and young children, can be technically challenging, yield much smaller volume samples, and can be distressing for the patients and their caregivers. Therefore, we have validated a mtDNAcn assay utilizing DNA from simple buccal swabs (Isohelix SK-2S) and report here it's performance in specimens from infants (age = <12 months). Utilizing qPCR to amplify ∼200 bp regions from two mitochondrial (
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