重症肌无力的分类及遗传学基础  

Classification and Genetic Basis of Myasthenia Gravis

作　　者：杜柏均[1] 吕妤卿 周心迪 田静[1] Du Baijun;Lv Yuqing;Zhou Xindi;Tian Jing(Key Laboratory of Resources Biology and The College of Life Sciences Biotechnology,Ministry of Education,Northwest University,Xi＇an,710069)

机构地区：[1]西北大学生命科学学院西部资源生物与生物技术教育部重点实验室

出　　处：《基因组学与应用生物学》2018年第8期3673-3679,共7页Genomics and Applied Biology

基　　金：西部资源生物与生物技术教育部重点实验室开放基金(No.360011326)资助

摘　　要：重症肌无力是一种罕见的自身免疫性疾病,其特征是机体自身产生了针对神经肌肉接头处突触后膜蛋白质的抗体,造成神经冲动的传递功能障碍从而导致肌肉无力、易疲劳的现象。根据血清中产生的抗体和临床表型,重症肌无力患者可分为不同的亚类,其发病机制受遗传和环境等多种因素的综合影响。本综述系统地总结了重症肌无力的亚组分类及最新的相关遗传学研究基础,重点论述了该病的易感基因、家族性重症肌无力及重症肌无力的表观遗传学研究,从而为疾病的预防、治疗以及相关领域研究提供参考。As a rare autoimmune disease,Myasthenia gravis（MG） is characterized by the body＇s own produce for neuromuscular junction postsynaptic membrane protein antibody,transmission of nerve impulse dysfunction caused by leading to muscle weakness and fatigue.According to produce antibodies in the serum and clinical phenotypes,MG patients can be divided into different classes,its pathogenesis by the combination of genetic and environmental factors.Patients with MG have been classified into different subgroups based on serum antibodies and clinical features,and the pathogenesis includes genetic,environment and multiple factors.Here this review systematically summarized the subgroup classification and the latest related genetic studies of MG This review focused on the susceptible genes,familial MG,and epigenetic studies,so as to provide references for the prevention,treatment and relevant research of MG.

关 键 词：重症肌无力 亚组分类 易感基因 家族性重症肌无力 表观遗传学 

分 类 号：R746.1[医药卫生—神经病学与精神病学]