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

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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.