CELLULAR CHARACTERIZATION OF CASPR2

CASPR2 的细胞特征

• 批准号: 8169643
• 负责人: Davide Comoletti
• 金额: $ 2.39万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-04-01 至 2011-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8169643
• 关键词: Affect; Autistic Disorder; Biochemical; Child; Communication; Computer Retrieval of Information on Scientific Projects Database; Data; Defect; Epidemiology; Epilepsy; Funding; Genes; Grant; Impairment; Institution; Investigation; Molecular; Mutation; Neurons; Proteins; Reciprocal Social Interaction; Research; Research Personnel; Resources; Risk; Schizophrenia; Source; Susceptibility Gene; Therapeutic Intervention; United States National Institutes of Health; Variant; autism spectrum disorder; base; design; insight; interest; mutant

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.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 自闭症的特点是普遍无法形成社会互动、言语和非言语交流严重受损以及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)，这一数字与 15-20 年前的估计相比大幅增加。新出现的证据表明，编码 Caspr2 蛋白的 CNTNAP2 基因内的拷贝数和其他功能变异的罕见变化会增加患自闭症、癫痫或精神分裂症的风险（Strauss 等，2006；Friedman 等，2007；Abrahams 等） .，2007；Arking 等，2008； et al., 2008），使 Caspr2 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。对 Caspr2 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重要见解，并为设计治疗干预措施提供基础。