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

Research Project

Project/Area Number 14570766
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionJichi Medical University

Principal Investigator

YAMAGATA Takanori  Jichi Medical School, Department of Pediatrics, Associate Professor, 医学部, 助教授 (00239857)

Co-Investigator(Kenkyū-buntansha) MORI Masato  Jichi Medical School, Department of Pediatrics, Assistant Professor, 医学部, 講師 (10337347)
SUWA Kiyotaka  Jichi Medical School, Department of Pediatrics, Assistant Professor, 医学部, 講師 (30285796)
中島 尚美  自治医科大学, 医学部, 助手 (20337330)
Project Period (FY) 2002 – 2004
Project Status Completed (Fiscal Year 2004)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2004: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2003: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2002: ¥1,300,000 (Direct Cost: ¥1,300,000)
KeywordsAutism / secretin / secretin receptor / MBD1 / Knockout mouse / FOXP2 / セクレチン受容体ノックアウトマウス
Research Abstract

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.

Report

(4 results)
  • 2004 Annual Research Report   Final Research Report Summary
  • 2003 Annual Research Report
  • 2002 Annual Research Report
  • Research Products

    (8 results)

All 2005 Other

All Journal Article (6 results) Publications (2 results)

  • [Journal Article] Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005

    • Author(s)
      L Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain and Development 27

      Pages: 207-210

    • NAID

      10015453725

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY
    • Journal Title

      Brain and Development 27

      Pages: 321-325

    • NAID

      10019356605

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain Dev 27

      Pages: 207-210

    • NAID

      10015453725

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients.2005

    • Author(s)
      Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY
    • Journal Title

      Brain Dev. 27

      Pages: 321-325

    • NAID

      10019356605

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain and Development (In press)

    • NAID

      10015453725

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Mutation analysis of methyl-CpG binding protein family genes in autistic patients

    • Author(s)
      Li H, Yamagata T, Mori M, Momoi MY
    • Journal Title

      Brain and Development (In press)

    • NAID

      10019356605

    • Related Report
      2004 Annual Research Report
  • [Publications] Yamagata T, Aradhya S, Mori M, Inoue K, Momoi M, Nelson D: "The human secretin gene : fine structure in 11p15.5 and sequence variation in patients with autism"Genomics. 80. 185-194 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Li H, Yamagata T, Mori M, Momoi MY: "Asscciation of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1"Jounal of Humam Genetics. 47. 262-265 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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