文献类型：期刊文献

中文题名：线粒体DNA拷贝数与人类疾病相关性研究进展

英文题名：Research Progress on the Relationship between Mitochondrial DNA Copy Number and Human Disease

作者：苏亚珍[1];黄圆[1];王昌荣[1];张旭[1];刘芳[1];陈彻[1]

第一作者：苏亚珍

机构：[1]甘肃中医药大学公共卫生学院,兰州730000

第一机构：甘肃中医药大学公共卫生学院

年份：2024

卷号：46

期号：8

起止页码：1589

中文期刊名：中国细胞生物学学报

外文期刊名：Chinese Journal of Cell Biology

收录：CSTPCD;;CSCD:【CSCD_E2023_2024】；PubMed;

基金：甘肃省科技计划项目青年科技基金(批准号:22JR11RA124);甘肃中医药大学科学研究与创新基金(批准号:2022KCYB-2);兰州市科技计划(批准号:2023-2-12);甘肃省中医药研究中心开放课题项目(批准号:zyzx-2023-06)资助的课题。

语种：中文

中文关键词：线粒体DNA拷贝数;线粒体病;衰老;神经退行性疾病;癌症

外文关键词：mitochondrial DNA copy number;mitochondrial disease;ageing;neurodegenerative diseases;cancer

摘要：线粒体是细胞的能量转换中心,并参与细胞凋亡、钙调控、自由基代谢、铁代谢、信号传递等多种生理活动,线粒体发挥功能依赖于正常的线粒体基因组。过去对于线粒体基因组的研究多集中在线粒体DNA突变引起线粒体功能异常导致疾病发生,然而近些年线粒体DNA拷贝数的变异引起了研究人员的关注。线粒体DNA拷贝数是线粒体活性的指标之一,其变异反映了线粒体的生物发生以及线粒体的功能。多种人类疾病中存在线粒体DNA拷贝数的变异,但调节线粒体DNA拷贝数的机制尚未被完全阐明。该文讨论了线粒体DNA拷贝数与线粒体病、衰老和年龄相关神经退行性疾病、癌症等疾病的相关性,以及线粒体DNA拷贝数的调控机制,以期为相关疾病的治疗、诊断和研究提供参考信息。
Mitochondria are the energy conversion center of cells,and participate in many physiological activities such as apoptosis,calcium regulation,free radical metabolism,iron metabolism,signal transmission,etc.The function of mitochondria depends on the normal mitochondrial genome.In the past,most studies on mitochondrial genome focused on mitochondrial DNA mutation leading to mitochondrial dysfunction and disease.However,in recent years,the variation of mitochondrial DNA copy number has attracted the attention of researchers.Mitochondrial DNA copy number is one of the indicators of mitochondrial activity,and its variation reflects the biogenesis and function of mitochondria.Mitochondrial DNA copy number variation exists in a variety of human diseases,but the mechanisms regulating mitochondrial DNA copy number have not been fully elucidated.This paper discusses the relationship between mitochondrial DNA copy number and diseases such as mitochondrial diseases,aging and age-related neurodegenerative diseases,cancer,and the regulatory mechanism of mitochondrial DNA copy number.This paper provides theoretical basis for the treatment,diagnosis and research of related diseases.