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Analysis for the pathogenesis and the target molecules of treatment for autism focusing on G-protein coupled receptors and synaptic molecules

以G蛋白偶联受体和突触分子为重点的自闭症发病机制及治疗靶点分析

基本信息

批准号：
23390275
负责人：
YAMAGATA Takanori
金额：
$ 12.31万
依托单位：
Jichi Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2011
资助国家：
日本
起止时间：
2011-04-01 至 2014-03-31
项目状态：
已结题

项目摘要

To detect the relating genes and the treatment of autism spectrum disorder (ASD), we analyzed ASD and intellectual disability patients for copy number variation and candidate gene mutation. Scaffolding proteins such as SHANK3 and LIN7A/B were detected as responsible gene. Lin7a/b were considered to have important role on neuronal development because neuronal cell movement and axon elongation were disturbed by blocking the expression of Lin7a/b in fetal brain. We previously detected gene mutations on the G-protein coupled receptors (GPCRs). Addition to them, mutations on secretin receptor gene that is one of the GPCR were detected. Expression of oxytocin and vasopressin were increased after intra-ventricular injection of secretin. These results indicated that scaffolding proteins and GPCRs closely related to ASD and the molecules relating to them were the targets for the treatment research.

为了检测自闭症谱系障碍（ASD）的相关基因和治疗，我们分析了ASD和智力残疾患者的拷贝数变异和候选基因突变。SHANK 3和LIN 7 A/B等支架蛋白被检测为相关基因。Lin 7a/B在胎脑中的表达被认为对神经元的发育具有重要作用，因为抑制Lin 7a/B的表达会干扰神经元的运动和轴突的伸长。我们以前检测到G蛋白偶联受体（GPCR）的基因突变。此外，还检测到GPCR之一的促胰液素受体基因突变。脑室注射促胰液素后，催产素和加压素的表达增加。这些结果表明，与ASD密切相关的支架蛋白和GPCR及其相关分子是治疗研究的目标。

项目成果

期刊论文数量（0）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Interstitial Deletion 12(q21.2-q21.33) in a Boy with Facial Dysmorphism and Menta Retardation

面部畸形和智力迟钝男孩的间质缺失 12(q21.2-q21.33)

DOI：
发表时间：
2012
期刊：
影响因子：
0
作者：
Matsumoto A;Yamagata T;Nozaki Y;Jimbo E;Momoi MY
通讯作者：
Momoi MY

LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.

DOI：
10.1371/journal.pone.0092695
发表时间：
2014
期刊：
PloS one
影响因子：
3.7
作者：
Matsumoto A;Mizuno M;Hamada N;Nozaki Y;Jimbo EF;Momoi MY;Nagata K;Yamagata T
通讯作者：
Yamagata T

自閉性障害患者における時計関連遺伝子の変異解析

自闭症患者时钟相关基因突变分析