CAJ | 학술논문

线粒体疾病主要是指由于遗传缺陷引起线粒体结构及功能异常,导致的多系统异质性疾病,以中枢神经系统与肌肉组织受到侵犯为主.线粒体疾病研究在人类的遗传学中占有重要地位.迄今为止,线粒体疾病及相关基因突变的研究已成为目前遗传学研究的重点.该文重点介绍线粒体疾病流行病学、分子生物学及遗传学、临床表现和诊断要点.
선립체질병주요시지유우유전결함인기선립체결구급공능이상,도치적다계통이질성질병,이중추신경계통여기육조직수도침범위주.선립체질병연구재인류적유전학중점유중요지위.흘금위지,선립체질병급상관기인돌변적연구이성위목전유전학연구적중점.해문중점개소선립체질병류행병학、분자생물학급유전학、림상표현화진단요점.
Mitochondrial disease is a set of multi-systematic and heterogeneous disease which invades in the central nervous system and muscles tissue adequately,mainly refers to the genetic defects that causes mitochondrial structure and function defect.Mitochondrial disease occupies an important position in the human genetics.At present,the research of mitochondrial disease and the related genetic mutation has become the focus in the genetics.This review is to discuss the mitochondrial disease epidemiology,molecular biology and genetics,clinical manifestations and diagnosis.