apfcbAPFCB eNewscoAPFCB News Volume 3, Issue 2MultidisciplinaryEnglishJul-Dec, 2024NNY2024091ArticlesExploring the Utility of Mitochondrial DNA Copy Number as a Quantitative Biomarker in Health and DiseaseEnglishY7177Dr. Deepak NParchwani1EnglishNDr. Ragini D.Singh2EnglishYDr. SagarDholariya3EnglishYDr. AmitSonagra4EnglishY10.62772/APFCB-News.2024.2.2Mitochondrial DNA copy number (mtDNA-CN) refers to the total number of mitochondrial DNA molecules within a cell, which varies depending on cell type and environmental factors. This variation provides critical insights into cellular health and function. A reduction in mtDNA-CN can signal changes in the cellular environment, potentially triggered by various factors, including stress or disease. The regulation of mtDNA-CN is governed by mitochondrial replication processes and influenced by factors such as energy demand, nutrient availability, and aging.Several methods are used to measure mtDNA-CN, including quantitative PCR (qPCR), digital PCR (dPCR), and next-generation sequencing (NGS). These techniques enable accurate quantification, although each has limitations. MtDNA-CN is increasingly recognized as a potential biomarker for various health conditions, including cancer, neurodegenerative diseases, and aging-related disorders. Research indicates that mtDNA-CN could reflect mitochondrial biogenesis, oxidative stress, or cellular aging, making it a valuable tool in disease diagnosis and monitoring.Despite its potential, challenges remain in standardizing mtDNA-CN measurements and understanding its role in different tissues and conditions. Further research is needed to fully realize its clinical utility and to explore its implications in health and disease.EnglishBiomarkers, Cellular health, Mitochondrial DNA copy number, Quantificationmethodshttps://www.apfcb.org/APFCB_News/abstract?id=15References16191. Longchamps RJ, Castellani CA, Yang SY, Newcomb CE, Sumpter JA, Lane J, Grove ML, Guallar E, Pankratz N, Taylor KD, Rotter JI. Evaluation of mitochondrial DNA copy number estimation techniques. PloS one 2020 Jan 31; 15(1):e0228166. 2. Lin YH, Lim SN, Chen CY, Chi HC, Yeh CT, Lin WR. Functional role of mitochondrial DNA in cancer progression. International journal of molecular sciences. 2022 Jan 31; 23(3):1659. 3. Yang SY, Castellani CA, Longchamps RJ, Pillalamarri VK, Oand;#39;Rourke B, Guallar E, Arking DE. Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease. Genome research. 2021 Mar 1; 31(3):349-58. 4. Misic J, Milenkovic D, Al-Behadili A, Xie X, Jiang M, Jiang S, Filograna R, Koolmeister C, Siira SJ, Jenninger L, Filipovska A. Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion. Nucleic Acids Research. 2022 Aug 26; 50(15):8749-66. 5. Liu Y, Liu H, Zhang F, Xu H. The initiation of mitochondrial DNA replication. Biochemical Society Transactions. 2024. 6. Leuthner TC, Hartman JH, Ryde IT, Meyer JN. PCR-based determination of mitochondrial DNA copy number in multiple species. Mitochondrial Regulation: Methods and Protocols. 2021:91-111. 7. Picard M. Blood mitochondrial DNA copy number: what are we counting? Mitochondrion. 2021. 8. Kopinski PK, Singh LN, Zhang S, Lott MT, Wallace DC. Mitochondrial DNA variation and cancer. Nature Reviews Cancer. 2021 Jul; 21(7):431-45. 9. To KK, Cheng VC, Cai JP, Chan KH, Chen LL, Wong LH, Choi CY, Fong CH, Ng AC, Lu L, Luo CT. Seroprevalence of SARS-CoV-2 in Hong Kong and in residents evacuated from Hubei province, China: a multicohort study. The Lancet Microbe. 2020 Jul 1; 1(3):e111-8. 10. Kang JI, Park CI, Lin J, Kim ST, Kim HW, Kim SJ. Alterations of cellular aging markers in obsessiveand;ndash;compulsive disorder: mitochondrial DNA copy number and telomere length. Journal of Psychiatry and Neuroscience. 2021 Jul 1;46(4):E451-8. 11. Bazzani V, Equisoain Redin M, McHale J, Perrone L, Vascotto C. Mitochondrial DNA repair in neurodegenerative diseases and ageing. International Journal of Molecular Sciences. 2022 Sep 27; 23(19):11391. 12. Abd Radzak SM, Mohd Khair SZ, Ahmad F, Patar A, Idris Z, Yusoff AA. Insights regarding mitochondrial DNA copy number alterations in human cancer. International Journal of Molecular Medicine. 2022 Jun 16;50(2):104.