线粒体遗传病的分子遗传学特征及其研究进展  

Characteristics of molecular genetics and research progress on mitochondrial diseases

作　　者：张萌[1] 司艳梅[1] 赵娟[1] 

机构地区：[1]首都医科大学附属北京妇产医院、北京妇幼保健院遗传与代谢实验室,北京100026

出　　处：《中华医学遗传学杂志》2016年第5期717-720,共4页Chinese Journal of Medical Genetics

摘　　要：线粒体遗传病是由于线粒体及其DNA的结构和功能异常，进而引起以能量代谢异常为主要表现的一大类代谢性疾病。线粒体DNA（mitochondrial DNA，mtDNA）异常可表现为点突变、缺失或重排及线粒体DNA耗竭等，进而影响不同组织和器官的氧化磷酸化功能。mtDNA突变的调控因素众多，导致线粒体病表现出广泛的遗传和临床异质性，加之线粒体病的单一病种发病率较低，造成此类疾病易发生误诊和延诊。本文回顾了mtDNA的各种致病性和良性改变，并对各种变异类型和临床特点及其研究进展加以综述。Mitochondrial diseases is a group of metabolic disorders caused by abnormal structure and dysfunction of mitochondriaI DNA （mtDNA）. Abnormalities of mtDNA include point mutations,deletions, and rearrangements and depletion of mtDNA. These may affect the ability of mitochondria to generate energy in cells of various tissues and organs. As many factors are involved in the regulation of mtDNA mutations, most mitochondrial diseases may manifest great genetic heterogeneity and a wide spectrum of clinical manifestations. On the other hand, for the low prevalence of single disease, these disorders may be easily missed or with delayed diagnosis. This review focuses on the pathological mutations and benign variations of mtDNA, and research progress on such disorders.

关 键 词：线粒体DNA 母系遗传 突变 异质性 

分 类 号：R596[医药卫生—内科学]