CELLULAR CHARACTERIZATION OF CASPR2

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 自闭症的特征是普遍无法形成社会互惠互动，言语和非言语交流严重障碍，活动和兴趣明显受限。根据最近的流行病学数据，每150名儿童中就有1名患有自闭症谱系障碍(ASD)，与15-20年前的估计相比，这一数字有相当大的增长。新出现的证据表明，编码Caspr2蛋白的CNTNAP2基因内拷贝数和其他功能变异的罕见变异增加了患自闭症、癫痫或精神分裂症的风险(Strauss等人，2006年；Friedman等人，2007年；Abrahams等人，2007年；Bakkaloglu等人，2008年；Arking等人，2008年；Alarcon等人，2008年)，使Caspr2基因成为广泛复制的自闭症易感基因。目前还没有关于这些突变引起的分子和细胞缺陷的信息。对Caspr2基因突变的生化和细胞后果的研究，有望为导致神经元连接异常的神经元异常提供关键的见解，并为设计治疗干预措施提供基础。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Autism is characterized by a general inability to form social reciprocal interactions, severe impairment in verbal and non-verbal communication and a markedly restricted repertoire of activity and interests. According to recent epidemiological data, 1 child in 150 is affected with autism spectrum disorder (ASD), a considerable increase compared with estimates compiled 15-20 years ago. Emerging evidence indicate that rare variations in copy number and other functional variants within the CNTNAP2 gene, encoding Caspr2 protein, increase the risk for autism, epilepsy, or schizophrenia (Strauss et al., 2006; Friedman et al., 2007; Abrahams et al., 2007; Bakkaloglu et al., 2008; Arking et al., 2008; Alarcon et al., 2008), making Caspr2 an extensively replicated autism-predisposition gene. No information is currently available on the molecular and cellular defects caused by any of these mutants. Investigation into the biochemical and cellular consequences of mutations in Caspr2, promises to give critical insights in the neuronal anomalies that give rise to aberrations in neuronal connectivity and provide a basis for designing therapeutic interventions.