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Brain GTP cyclohydrolase I protein reduction in dopa-responsive dystonia: a clue to the pathogenesis.

Research Project

Project/Area Number 22590941
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionJuntendo University

Principal Investigator

FURUKAWA Yoshiaki  順天堂大学, 医学部, 教授 (10219107)

Co-Investigator(Kenkyū-buntansha) SHIMURA Hideki  順天堂大学, 医学部, 准教授 (50286746)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
KeywordsGTP シクロヒドロラーゼ I / テトラヒドロビオプテリン / チロシン水酸化酵素 / ーパ反応性ジストニー / パーキンソン病 / 剖検脳 / 老化 / 神経化学 / GTPシクロヒドロラーゼI / ドーパ反応性ジストニー
Research Abstract

Many patients with dopa-responsive dystonia (DRD) have shown mutations in the gene encoding GTP cyclohydrolase I (GTPCH). However, there have been no reports of GTPCH protein levels in the brain of human subjects and the actual status of striatal GTPCH in DRD is unknown. We measured GTPCH protein concentrations for the first time in the autopsied human brain and found the following; 1) the expression level of this protein was high in the striatum, 2) concentrations of GTPCH protein in the putamen were substantially decreased in patients with GTPCH-deficient DRD (-76% [mean]) and were significantly reduced in patients with Parkinson disease (-53%), and 3) GTPCH protein levels in the putamen increased in early postnatal period (1-28 days), reached a plateau in childhood, and decreased in adulthood (17-99 years).

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (8 results)

All 2013 2012 2011

All Journal Article (3 results) (of which Peer Reviewed: 3 results) Presentation (4 results) Book (1 results)

  • [Journal Article] GTP cyclohydrolase 1-deficient dopa-responsive dystonia2012

    • Author(s)
      Yoshiaki Furukawa
    • Journal Title

      GeneReviews (National Center for Biotechnology Information [Internet:www.ncbi.nlm.gov], NIH)

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] GTP cyclohydrolase 1-deficient dopa-responsive dystonia: update (2012)2012

    • Author(s)
      古川芳明
    • Journal Title

      GeneReviews (National Center for Biotechnology Information [Internet: www.ncbi.nlm.gov], NIH)

      Volume: -

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] GTP cyclohydrolase 1-deficient dopa-responsive dystonia2011

    • Author(s)
      古川芳明
    • Journal Title

      GeneReviews (National Center for Biotechnology

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] ヒト線条体GTPCHとTHの発達・老化に伴う変化とドーパ反応性ジストニア発症機序の関連2013

    • Author(s)
      古川芳明
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] ドーパ反応性ジストニアとパーキンソン病における脳内GTP cyclohydrolase I 蛋白質量の変化2012

    • Author(s)
      古川芳明
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] Recent advances in the genetics and neurochemistry of dopa-responsive dystonia2012

    • Author(s)
      古川芳明
    • Organizer
      第27回日本大脳基底核研究会
    • Place of Presentation
      東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] Recent advances in the neurochemistry of dopa-responsive dystonia2011

    • Author(s)
      古川芳明
    • Organizer
      XXth World Congress of Neurology
    • Place of Presentation
      Congress Center (Marrakesh, Morocco)
    • Year and Date
      2011-11-14
    • Related Report
      2011 Annual Research Report
  • [Book] In: Frucht SJ, editor2013

    • Author(s)
      Yoshiaki Furukawa, Mark Guttman, Shinichiro Nakamura, Stephen J. Kish
    • Publisher
      Springer (Humana Press)
    • Related Report
      2012 Final Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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