CELLULAR CHARACTERIZATION OF CASPR2

这个子项目是许多利用资源的研究子项目之一 由NIH/NCRR资助的中心拨款提供。子项目的主要支持 而子项目的主要调查员可能是由其他来源提供的， 包括其它NIH来源。 列出的子项目总成本可能 代表子项目使用的中心基础设施的估计数量， 而不是由NCRR赠款提供给子项目或子项目工作人员的直接资金。 自闭症的特征是一般无法形成社会互惠互动，语言和非语言交流严重受损，活动和兴趣明显受限。根据最近的流行病学数据，每150名儿童中就有一名患有自闭症谱系障碍，与15至20年前编制的估计数相比，这一数字大幅增加。新出现的证据表明，编码Caspr 2蛋白的CNTNAP 2基因内拷贝数和其他功能变体的罕见变异增加了自闭症、癫痫或精神分裂症的风险（Strauss et al.，2006; Friedman等人，2007; Abrahams等人，2007; Bakkaloglu等人，2008; Arking等人，2008; Alarcon等人，2008年），使Caspr 2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体引起的分子和细胞缺陷的信息。Caspr 2突变的生化和细胞后果的调查，有望在神经元异常，引起神经元连接畸变，并提供设计治疗干预的基础上，提供关键的见解。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. 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.