线粒体DNA拷贝数与人类疾病相关性研究进展
Research Progress on the Relationship between Mitochondrial DNA Copy Number and Human Disease
苏亚珍 1黄圆 1王昌荣 1张旭 1刘芳 1陈彻1
作者信息
- 1. 甘肃中医药大学公共卫生学院,兰州 730000
- 折叠
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.
Abstract
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 mitochon-drial 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.Mito-chondrial DNA copy number is one of the indicators of mitochondrial activity,and its variation reflects the biogen-esis 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 dis-cusses the relationship between mitochondrial DNA copy number and diseases such as mitochondrial diseases,ag-ing 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.
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Key words
mitochondrial DNA copy number/mitochondrial disease/ageing/neurodegenerative diseases/cancer引用本文复制引用
基金项目
甘肃省科技计划项目青年科技基金(22JR11RA124)
甘肃中医药大学科学研究与创新基金(2022KCYB-2)
兰州市科技计划(2023-2-12)
甘肃省中医药研究中心开放课题项目(zyzx-2023-06)
出版年
2024
NETL
NSTL
万方数据