孤独症的神经生物学研究  

Neurobiological Studies for Autism Spectrum Disorders

作　　者：仇子龙[1] 李霄[1] 

机构地区：[1]中国科学院上海生命科学研究院神经科学研究所,上海200031

出　　处：《中国科学：生命科学》2015年第8期725-729,共5页Scientia Sinica(Vitae)

基　　金：国家重点基础研究发展计划(批准号:2011CBA00400);中国科学院战略性先导科技专项(B类)(批准号:XDB02050400)资助

摘　　要：孤独症是一种严重的神经发育性疾病,主要症状有重复刻板行为、社交沟通障碍及语言发育迟缓等,多发于2~5岁幼儿中,症状往往伴随患者终生.经过长期的遗传学研究,基因的变异包括点突变与大片段缺失及重复在孤独症的发病因素中占到了很大的比例.但是目前并未发现有某些少数主效基因占到孤独症遗传变异的主要地位,提示孤独症是一种多基因致病,并与环境因素密切相关的复杂疾病.对孤独症的神经生物学研究揭示,在孤独症中发生突变的基因多编码影响神经系统发育及突触传导的重要蛋白,因此神经发育及突触传导的异常很可能是导致孤独症的重要因素.目前在多种模式生物,包括大小鼠及非人灵长类中构建了基于基因操作的孤独症模型.随着基础研究的不断深入,最终将揭示孤独症致病因素并找到有效干预方法.Autism/autism spectrum disorders is a kind of severe neurodevelopmental disorders, featuring repetitive behaviors, defects in social communication, delay in language development and mainly in the 2~5 year-old children, the symptoms are often accompanied by the patient for life. After a long genetics research found that genetic components accounted for a large proportion of the causes of autism. However, there are no major genes identified from various genome-wide association studies carried out in different populations, suggesting that multiple mutations may contribute significantly to autism which associate with environment. Neurobiology of autism research revealed that numerous mutations have been identified in genes encoding synaptic protein and proteins involved in neural development. Thus defects in neural development and synaptic functions may one of major causes for autism. Now various animal models, including rodent and non-human primates, have been established for neurobiological and translational studies of autism. With further basic research, we will eventually reveal autism risk factors and to find effective interventions.

关 键 词：孤独症 基因组关联分析 拷贝数变异 突触 神经发育 动物模型 

分 类 号：R749.94[医药卫生—神经病学与精神病学]