孤独症研究新进展:新发突变及CHD8功能  

Progress in Autism:de novo mutation and CHD8 functions

作　　者：熊昕昕 贺苗[1] 陈晓钎[1] 

机构地区：[1]华中科技大学基础医学院病理生理学系,武汉430032

出　　处：《生理科学进展》2014年第3期185-189,共5页Progress in Physiological Sciences

基　　金：国家自然科学基金(81070937;81172397);中央高校基本科研业务费(HUST:2013ZHYX017)资助课题

摘　　要：孤独症(即自闭症谱系障碍)是最常见的儿童中枢神经系统发育紊乱疾病。目前尚无特效治疗药物。最新的突破性进展是通过外显子组测序发现了一批与孤独症相关的单基因新发突变(de novo mutation)。在筛查到的众多孤独症相关新突变基因中,染色体结构域解旋酶DNA结合蛋白8(chromodomain helicase DNA-binding protein 8,CHD8)突变频率最高,是一个重要的孤独症候选致病基因。CHD8与p53、β-catenin等转录因子结合,具有复杂的转录调控作用。孤独症致病基因的发现为孤独症的诊断和治疗提供了分子靶标。Autism or autism spectrum disorders is the most common central nervous system developmental disorder in children.Until now,there is still no effective drug for autism.The latest breakthrough advance in autism study is the discovery of autism-related gene de novo mutation by the whole exon sequencing.Among multiple de novo gene mutations identified in autism,the chromodomain helicase DNAbinding protein 8（CHD8） is the most frequently mutated gene,suggesting that CHD8 is an important candidate gene for autism.CHD8 binds to various other proteins such as p53 and β-catenin to regulate gene expression.The discovery of autism-candidate genes provides novel molecular targets for the diagnosis and treatment of autism.

关 键 词：孤独症 新发突变 染色体结构域解旋酶DNA结合蛋白8 

分 类 号：R363[医药卫生—病理学]