线粒体DNA拷贝数与疾病

Mitochondrial DNA copy number and disease

摘要:

线粒体是人体中的重要细胞器，参与生物体的新陈代谢，线粒体DNA（mtDNA）拷贝数更是与糖尿病、心血管疾病、神经系统疾病和肿瘤等多种疾病密切相关。mtDNA突变常常导致多器官功能障碍，从而产生一系列的临床综合征。本文回顾近年来有关mtDNA拷贝数的文献，对mtDNA拷贝数及其调控机制、以及mtDNA与临床疾病的相关性等方面进行阐述。

Abstract:

Mitochondrion, an important organelle in human body, participates in the energy metabolism. Copy number of mitochondrial DNA (mtDNA) is closely associated with diabetes, cardiovascular disease, nerve system disease and cancer etc, and mtDNA mutation often leads to multiple organ dysfunction, resulting in a series of clinical syndromes. This article reviewed the literatures concerning mtDNA copy number published in recent years, and elaborated the number, its regulative mechanism and the association with clinical diseases.