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CAG repeat expansion in familial moyamoya disease

Research Project

Project/Area Number 12470284
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Cerebral neurosurgery
Research InstitutionTohoku University

Principal Investigator

IKEDA Hidetoshi  Tohoku University Hospital, Lecturer, 医学部・附属病院, 講師 (00202896)

Co-Investigator(Kenkyū-buntansha) KONDO Takeo  Tohoku University Hospital, Research Associate, 医学部・附属病院, 助手 (30282130)
AOKI Masashi  Tohoku University Hospital, Research Associate, 医学部・附属病院, 助手 (70302148)
YOSHIMOTO Takashi  Tohoku University Graduate School of Medicine, Professor, 医学系研究科, 教授 (50091765)
Project Period (FY) 2000 – 2001
Project Status Completed (Fiscal Year 2001)
Budget Amount *help
¥14,900,000 (Direct Cost: ¥14,900,000)
Fiscal Year 2001: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 2000: ¥13,400,000 (Direct Cost: ¥13,400,000)
Keywordsclinical anticipation / CAG repeat diseases / RED method / moyamoya disease / familial / clinical anticiaption / モヤモヤ病 / CAGリピート / 遺伝子解析 / ERDA1 / CTG18.1 / 家族例
Research Abstract

To determine whether clinical anticipation found in familial moyamoya family is caused by the genetic molecular mechanism such as CAG repeat expansion, we examine CAG repeat expansion in familial and idiopathic moyamoya diseases. CAG repeat expansion in genomic DNA from 27 cases of familial cases (12 cases with moyamoya disease, 15 cases without moyamoya disease), and 24 cases of idiopathic cases were screened by repeat expansion detecting method. CAG repeat expansion was found in 5 cases in the familial cases, and none in idiopathic cases. The persons with CAG repeat expansion in familial cases were all females, but no correlation with or without moyamoya disease. These results suggest that CAG repeat expansion may influence the background of hereditary factor for familial moyamoya disease, but be not the direct causative factor for moyamoya disease.

Report

(3 results)
  • 2001 Annual Research Report   Final Research Report Summary
  • 2000 Annual Research Report
  • Research Products

    (9 results)

All Other

All Publications (9 results)

  • [Publications] 池田 秀敏 他: "moyamoya病原因遺伝子の解明"Molecular Medicine. 37. 160-163 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] 池田 秀敏: "もやもや病と遺伝子"神経内科. 54. 334-339 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] 池田 秀敏 他: "モヤモヤ病と遺伝子-もやもや病の民族的偏在に関する分子生物学的検討-"分子脳血管病. 1. 45-48 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Ikeda H, et al.: "Positional cloning of the for the gene responsible for moyamoya disease"Molecular Medicine. 37. 160-163 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Ikeda H.: "Genetic analysis of moyamoya disease"Neurol. Med.. 54. 334-339 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Ikeda H, et al.: "Moyamoya disease and its gene"Mol. Cerebrovasuclar dis.. 1. 45-48 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] 池田秀敏 他: "moyamoya病原因遺伝子の解明"Molcular Medicine. 160-163 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] 池田秀敏: "もやもや病と遺伝子"神経内科. 54. 334-339 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 池田秀敏 他: "モヤモヤ病と遺伝子-もやもや病の民族的偏在に関する分子生物学的検討-"分子脳血管病. 1. 45-48 (2002)

    • Related Report
      2001 Annual Research Report

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Published: 2000-04-01   Modified: 2016-04-21  

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