线粒体基因组变异同神经退行性疾病的关系

Mitochondrial genome variants and neurodegenerative diseases

神经退行性疾病为一组不明原因的中枢及周围神经系统慢性进行性损害性疾病,包括阿尔兹海默病、帕金森病、肌萎缩侧索硬化症、额颞叶痴呆等,其发病主要与老龄化、遗传及环境等因素有关。越来越多的证据表明,线粒体功能障碍与神经退行性疾病的发生密切相关,其中线粒体基因的点变异、插入缺失变异以及拷贝数变异等扮演着重要的角色。本文就近年来线粒体基因变异与神经退行性疾病发病的相关研究进行综述,以期为这类疾病的发生机制、诊断及新药研发提供思路。

Neurodegenerative diseases are a group of diseases characterized by chronic progressive damage to tissues of central nervous system and peripheral nervous system,which include Alzheimer’s disease,Parkinson’s disease,amyotrophic lateral sclerosis,frontotemporal dementia,etc.The etiology is mainly related to factors such as aging,genetics and environment.More and more evidence indicate that mitochondrial dysfunction plays a vital role in the pathogenesis of neurodegenerative diseases.Variants of mitochondrial genes,including point variants,deletions,and copy number variations,have been recognized as important factors modulating genetic susceptibility to such diseases.This paper has reviewed recent studies for the influence of mitochondrial variants on the pathogenesis of neurodegenerative diseases,in order to provide clues for the pathogenesis,diagnosis and development of new drugs for such disorders.