| Co-Investigator(Kenkyū-buntansha) |
YAMAGATA Takanori JICHI MEDICAL UNIVERSITY, School of Medicine, Associate Professor, 医学部, 助教授 (00239857)
MORI Masato JICHI MEDICAL UNIVERSITY, School of Medicine, Lecturer, 医学部, 講師 (10337347)
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| Research Abstract |
To identify common molecular processes for autism, mutation screening of broad spectrum of genes were performed. Genes analyzed included NRCAM, SLC26A3, FOXP2, WNT23, WNT16, GRM8, secretin, secretin receptor, HTR5, GPRPs, MECP2, MBD1, 2, 3 and others. Among 50-100 samples studied, one missense mutation was detected in MBD1 gene, which belongs to the family of methyl-CpG binding protein gene. Another missense mutation was detected in WNT16 gene. Considering the important contribution of WNT signals in neurogenesis, dendrigenesis, and synaptogenesis, the mutation in a WNT family gene suggested molecular processes in neurogenesis was involved in autism. In FOXP2, there was no disease-related mutation, however, there detected disease-related allele in intron 15. Other genes studied did not show disease-related alleles or mutations in their exons and introns. Our results suggested that there certainly existed disease-related mutation in genes that regulate gene expression or neurogenesis. The common nature of MBD1, WNT16, and FOXP2 is to control gene expression, although the processes were different. Our results also suggested that the derangement of controlling gene expression could be the basic molecular event in autism. Although we did not detect any mutation in secretin gene nor in secretin receptor gene, the knockout mouse of secretin receptor showed abnormal sociability. This may suggest that other molecules via secretin receptor can be linked with autism.
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