Research progress on mitochondrial DNA mutations and copy number variations in tumor diagnosis and treatment
10.3969/j.issn.1672-8467.2025.03.016
- VernacularTitle:线粒体DNA突变和拷贝数变异与肿瘤诊治的研究进展
- Author:
Yi-hao LI
1
;
Wei GUO
Author Information
1. 复旦大学附属中山医院检验科 上海 200032
- Publication Type:Journal Article
- Keywords:
mitochondria DNA(mtDNA);
mitochondrial DNA mutations;
tumors diagnosis;
copy number variation
- From:
Fudan University Journal of Medical Sciences
2025;52(3):446-449,457
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondria are one of the most important organelles in cellular metabolism,and their genomes are prone to mutations and lack damage repair mechanisms.Mitochondrial DNA(mtDNA)mutations and copy number variations play important roles in the occurrence and development of tumors.In recent years,research has found that mtDNA mutations and copy number variations exist in various tumor diseases,and the detection of mtDNA in tumor tissues,especially cell-free mitochondrial DNA in patient fluids,may also serve as important means to indicate tumor diseases.This article aims to summarize and to review the correlation between mitochondrial genome mutations and copy number variations with tumor diseases and their diagnosis,as well as the research progress as tumor biomarkers,in order to provide reference for the clinical diagnosis of tumor diseases.
