Identification for the genes of autism by the analysis of neuronal peptides and linkage analysis.

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1. We have analyzed the genes on 7q where the linkage with autistic disorder has reported, and also the functional candidate genes of autism using DHPLC method and sequencing. We analyzed several genes for mutations on Japanese autistic population and found a SNP on FOXP2 relate to the autistic population. FOXP2 is a gene for dyslexia, therefore it is interesting to know the relation with autism. Addition to that, we detected a base change of C805T that induce R269C on MBD1 in a patient with autistic disorder, and not in the control group. It is suggested that MBD1 relate to autistic disorder. MBD1 belongs to the genes of methylation binding domain with MECP2 and work for the gene silencing.2. We established secretin receptor Knockout (Sctr KO) mouse and analyzed it. Secretin receptor was expressed in the brain, stomack, pancreas, and kidney. In the brain, it was expressed in hypocampus, deep layer of cerebral cortex, amygdala, hypothalamus and cerebellum. On the behavior test, Sctr KO mouse showed the abnormal response on tube test and partition test These result meant that social recognition was impaired in Sctr KO mouse. Abnormality of social behavior is one of the main feature of autism. Sctr Ko mouse also showed the impaired long term potential on hypocampus. These results showed that secretin is working in the brain and relate to autism. Further analysis is expected to elucidate the function of secretin in the brain and relation to autism.