Parchwani D, Singh R, Patel D. Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance. World J Methodol 2025; 15(3): 102709 [DOI: 10.5662/wjm.v15.i3.102709]
Corresponding Author of This Article
Deepak Parchwani, PhD, Professor, Department of Biochemistry, All India Institute of Medical Sciences, AIIMS Rajkot, Village Khandheri, Tehsil Paddhari, Rajkot 360001, India. drdeepakparchwani@yahoo.com
Research Domain of This Article
Biochemistry & Molecular Biology
Article-Type of This Article
Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Methodol. Sep 20, 2025; 15(3): 102709 Published online Sep 20, 2025. doi: 10.5662/wjm.v15.i3.102709
Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance
Deepak Parchwani, Ragini Singh, Digisha Patel
Deepak Parchwani, Ragini Singh, Department of Biochemistry, All India Institute of Medical Sciences, Rajkot 360001, India
Digisha Patel, Department of Physiology, Shantabaa Medical College and General Hospital Amreli, Amreli 365601, Gujarāt, India
Author contributions: Parchwani D conceived the overall concept and design of the manuscript, contributed to the drafting of the manuscript and the critical revision of the intellectual content, and was also involved in the finalization of manuscript submissions; Singh R played a pivotal role in literature collection, assisted in the writing and revision of specific sections, provided valuable input for structuring the manuscript, and contributed to the manuscript’s final editing; Patel D led the literature review process, ensuring that all relevant studies and articles were cited, assisting in drafting and revising manuscripts, and assisting in the preparation of tables; and all authors thoroughly reviewed and endorsed the final manuscript.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Deepak Parchwani, PhD, Professor, Department of Biochemistry, All India Institute of Medical Sciences, AIIMS Rajkot, Village Khandheri, Tehsil Paddhari, Rajkot 360001, India. drdeepakparchwani@yahoo.com
Received: October 28, 2024 Revised: January 21, 2025 Accepted: February 8, 2025 Published online: September 20, 2025 Processing time: 130 Days and 19.8 Hours
Abstract
The mitochondrial DNA copy number (mtDNAcn) plays a vital role in cellular energy metabolism and mitochondrial health. As mitochondria are responsible for adenosine triphosphate production through oxidative phosphorylation, maintaining an appropriate mtDNAcn level is vital for the overall cellular function. Alterations in mtDNAcn have been linked to various diseases, including neurodegenerative disorders, metabolic conditions, and cancers, making it an important biomarker for understanding the disease pathogenesis. The accurate estimation of mtDNAcn is essential for clinical applications. Quantitative polymerase chain reaction and next-generation sequencing are commonly employed techniques with distinct advantages and limitations. Clinically, mtDNAcn serves as a valuable indicator for early diagnosis, disease progression, and treatment response. For instance, in oncology, elevated mtDNAcn levels in blood samples are associated with tumor aggressiveness and can aid in monitoring treatment efficacy. In neurodegenerative diseases such as Alzheimer’s and Parkinson’s, altered mtDNAcn patterns provide insights into disease mechanisms and progression. Understanding and estimating mtDNAcn are critical for advancing diagnostic and therapeutic strategies in various medical fields. As research continues to uncover the implications of mtDNAcn alterations, its potential as a clinical biomarker is likely to expand, thereby enhancing our ability to diagnose and manage complex diseases.
Core Tip: This review highlights the critical biological and translational significance of mitochondrial DNA (mtDNA) copy number (mtDNAcn) variations and emphasizes their implications in both laboratory diagnostics and clinical settings. By exploring the mechanisms underlying mtDNA replication, the association of mtDNAcn with various diseases, and its potential as a biomarker for mitochondrial dysfunction, we underscore the need for standardized methodologies for measuring mtDNAcn. This perspective aims to bridge the gap between basic research and clinical applications by facilitating the integration of mtDNAcn assessments into routine diagnostic practices and therapeutic strategies for mitochondria-related diseases.
