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Elucidation of common mechanisms of MECP2 abnormal diseases

Research Project

Project/Area Number 18K06484
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 46010:Neuroscience-general-related
Research InstitutionNagoya University

Principal Investigator

Tsujimura Keita  名古屋大学, 理学研究科, 特任講師 (60588474)

Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2018: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords発達障害 / 疾患メカニズム / 遺伝子発現 / RNAシークエンス / MECP2 / レット症候群 / MECP2重複 / 精神神経疾患
Outline of Final Research Achievements

MECP2 gene variations cause severe developmental disorders such as Rett syndrome and MECP2 duplication syndrome. MECP2 mutations are also linked to a variety of brain developmental disorders including autism spectrum disorder (ASD), intellectual disability and seizure. Therefore, it is anticipated that elucidation of molecular pathogenesis of developmental disorders caused by MECP2 variations leads to understanding of a broad range of developmental diseases and development of novel diagnostic and therapeutic avenues. However, mechanisms of molecular pathogenesis of developmental disorders caused by MECP2 variations are unclear. To investigate common molecular mechanisms of the MECP2 abnormal diseases, we prepared and established disease models of Rest syndrome and MECP2 duplication, respectively, in this study. These research resources contribute to studies of pathophysiology of broad developmental disorders.

Academic Significance and Societal Importance of the Research Achievements

本研究は単一遺伝性疾患であるレット症候群とMECP2重複症候群の共通病態を研究することを企図した。この目的のために、レット症候群とMECP2重複症候群の両疾患モデル生物の取得と構築に取り組んだ。また、詳細な共通病態を解析するために必要な遺伝子改変マウスとプラスミドDNAを取得し、研究の遂行を進めた。疾患モデル生物の表現型を解析し、研究リソースとしての有用性を確認した。これらにより、両疾患の共通メカニズムを研究するための準備を整備することができ、本研究以外の病態解明研究にも資する成果を得た。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (9 results)

All 2021 2020 2018

All Journal Article (2 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 2 results,  Open Access: 1 results) Presentation (6 results) (of which Invited: 6 results) Book (1 results)

  • [Journal Article] MeCP2 controls neural stem cell fate specification through miR-199a-mediated inhibition of BMP-Smad signaling2021

    • Author(s)
      Hideyuki Nakashima, Keita Tsujimura, Koichiro Irie, Takuya Imamura, Cleber A Trujillo, Masataka Ishiizu, Masahiro Uesaka, Miao Pan, Hirofumi Noguchi, Tomoko Andoh-Noda, Hideyuki Okano, Alysson R Muotri, Nakashima Kinichi
    • Journal Title

      Cell Reports

      Volume: in press

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Canonical TGF-β Signaling Negatively Regulates Neuronal Morphogenesis through TGIF/Smad Complex-Mediated CRMP2 Suppression2018

    • Author(s)
      Hideyuki Nakashima, Keita Tsujimura, Koichiro Irie, Masataka Ishizu, Miao Pan, Tomonori Kameda, Kinichi Nakashima
    • Journal Title

      Journal of Neuroscience

      Volume: 38 Issue: 20 Pages: 4791-4810

    • DOI

      10.1523/jneurosci.2423-17.2018

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Presentation] 発達障害の脳細胞系譜病態と神経幹細胞運命決定機構2021

    • Author(s)
      辻村啓太
    • Organizer
      若手新分野創成ワークショップ
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Regulation of neuronal development by Rett syndrome causative gene MeCP22021

    • Author(s)
      Keita Tsujimura
    • Organizer
      The 14th Annual Meeting for Japanese Developmental Neuroscientists Korea Japan Joint Symposium
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] 治療法開発とMRI研究2021

    • Author(s)
      辻村啓太
    • Organizer
      2021 レット症候群とMECP2重複症候群合同シンポジウム
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Regulation of functional neural circuit development by Rett syndrome causative factor MeCP22020

    • Author(s)
      Keita Tsujimura
    • Organizer
      The 43rd Annual Meeting of the Japan Neuroscience Society 第43回日本神経科学大会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Rett症候群における神経回路病態の解明と治療法開発2020

    • Author(s)
      辻村啓太
    • Organizer
      「2020レット症候群とMECP2重複症候群合同」シンポジウム
    • Related Report
      2019 Research-status Report
    • Invited
  • [Presentation] Rett症候群原因因子MeCP2によるmicroRNAプロセシングを起点とした神経機能制御とその応用2018

    • Author(s)
      辻村 啓太
    • Organizer
      名古屋大学 研究大学強化促進事業 若手新分野フロンティア シンポジウム
    • Related Report
      2018 Research-status Report
    • Invited
  • [Book] Rett syndrome and stem cell research2018

    • Author(s)
      Keita Tsujimura and Nakashima Kinichi
    • Total Pages
      15
    • Publisher
      Springer International Publishing
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2022-01-27  

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