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2012 Fiscal Year Final Research Report

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

Research Project

  • PDF
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
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
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).

  • Research Products

    (2 results)

All 2013 2012

All Journal Article (1 results) (of which Peer Reviewed: 1 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)

    • Peer Reviewed
  • [Book] In: Frucht SJ, editor2013

    • Author(s)
      Yoshiaki Furukawa, Mark Guttman, Shinichiro Nakamura, Stephen J. Kish
    • Total Pages
      319-340
    • Publisher
      Springer (Humana Press)

URL: 

Published: 2014-08-29  

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