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A study for molecular pathomechanism of neurodevelopment disorders causing epigenetic dysfunction

Research Project

Project/Area Number 24390270
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypePartial Multi-year Fund
Section一般
Research Field Pediatrics
Research InstitutionNational Center of Neurology and Psychiatry

Principal Investigator

Masayuki Itoh  国立研究開発法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 (50243407)

Co-Investigator(Kenkyū-buntansha) MATSUDA Junichirou  国立研究開発法人 医薬基盤・健康・栄養研究所, 難病・疾患資源研究部, 研究リーダー (60181731)
TAKAHASHI Satoshi  国立大学法人 旭川医科大学, 医学部小児科学, 講師 (10431404)
Project Period (FY) 2012-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000)
Fiscal Year 2015: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2013: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Keywordsエピゲノム / 発達障害 / レット症候群 / MeCP2 / IGFBP3 / モデル動物 / インプリンティング
Outline of Final Research Achievements

Neurodevelopmental disorders contain many systemic-epigenome disrupted diseases, like Rett syndrome (RTT). As well-known, epigenome-system in brain plays an important role in control of mental state. On the other hand, the abnormality of MECP2 gene, that is major causative gene of RTT and its product mainly works transcription repressor, presents two different phenotypes of RTT and Angelman syndrome. Moreover, it has been reported strongly functional relationship of MECP2 gene and chromosome 15q11-q13 (AS-PWS imprinting region).
In the present study, we performed MeCP2 functional analyses and recovery study, using original mecp2-expression control mice and multiple approaches. As the results, we revealed that molecular pathophysiology of abnormal MeCP2 gene and discovered some candidate factors to be mild phenotypes of RTT and critical period for any treatment. From the study, we could learn the important factors of epigemone system in developmental disorders.

Report

(5 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Annual Research Report
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • Research Products

    (14 results)

All 2015 2014 2013 2012

All Journal Article (6 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 5 results,  Open Access: 3 results,  Acknowledgement Compliant: 2 results) Presentation (6 results) (of which Int'l Joint Research: 1 results,  Invited: 2 results) Book (2 results)

  • [Journal Article] miR-199a links MeCP2 with mTOR signaling and its dysregulation leads to Rett Syndrome phenotypes.2015

    • Author(s)
      Tsujimura K, Irie K, Nakashima H, Egashira Y, Fukao Y, Fujiwara M, Itoh M, Uesaka M, Imamura T, Nakahata Y, Yamashita Y, Abe T, Takamori S, Nakashima K.
    • Journal Title

      Cell Rep

      Volume: 12 Issue: 11 Pages: 1887-1901

    • DOI

      10.1016/j.celrep.2015.08.028

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Expression of Astrocyte-related Receptors in Cortical Dysplasia with Intractable Epilepsy2014

    • Author(s)
      Sukigara S, Dai H, Nabatame S, Otsuki T, Hanai S, Honda R, Saito T, Nakagawa E, Kaido T, Sato N, Kaneko Y, Takahashi A, Sugai K, Saito Y, Sasaki M, Goto Y, Koizumi S, Itoh M
    • Journal Title

      J Neuropathol Exp Neurol

      Volume: 73 Pages: 798-806

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] LOX-1 Is a Novel Therapeutic Target in Neonatal Hypoxic-Ischemic Encephalopathy2014

    • Author(s)
      Akamatsu T, Dai H, Mizuguchi M, Goto Y, Oka A, Itoh M
    • Journal Title

      Am J Pathol

      Volume: 184 Issue: 6 Pages: 1843-1852

    • DOI

      10.1016/j.ajpath.2014.02.022

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome.2013

    • Author(s)
      Miyake K, Yang C, Minakuchi Y, Ohori K, Soutome M, Endoh K, Hirasawa T, Kazuki Y, Adachi N, Suzuki S, Itoh M, Goto Y, Andoh T, Kurosawa H, Oshimura M, Sasaki M, Toyoda A, Kubota T.
    • Journal Title

      PLoS ONE

      Volume: 8 Pages: 66729-66729

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] レット症候群:自閉性障害をもつ特異な発達障害2013

    • Author(s)
      伊藤雅之
    • Journal Title

      SRL宝函

      Volume: 34 Pages: 28-39

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Methyl CpG-binding protein isoform MeCP2_e2 1s dispensable for phenotypes but essential for embryo viability and placenta development.2012

    • Author(s)
      Itoh M, Tahimic CGT, Ide S, Otsuki A, Sasaoka T, Noguchi S, Oshimura M, Goto Y, Kurimasa A.
    • Journal Title

      J Biol Chem

      Volume: 287 Pages: 741-749

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Presentation] Study of Rett syndrome epidemiology and database in Japan.2015

    • Author(s)
      Itoh M, Nabatame S, Tachimori T, Matsuishi T.
    • Organizer
      The 4th European Rett syndrome Conference
    • Place of Presentation
      BarceloAran Mantegna Hotel, Rome, Italy
    • Year and Date
      2015-10-30
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] レット症候群研究班のこれまでの活動と今後の展望.2015

    • Author(s)
      伊藤雅之
    • Organizer
      レット症候群シンポジウム2015.
    • Place of Presentation
      一橋講堂. 東京
    • Year and Date
      2015-04-19
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] Epidemiological study of Japanese Rett syndrome. Pathways of Neurodevelopmental Disorders2015

    • Author(s)
      Itoh M, Nabatame S, Matsuishi T
    • Organizer
      Keystone Symposia Conference
    • Place of Presentation
      Granlibaken Resort, Tahoe City, California
    • Year and Date
      2015-03-16 – 2015-03-20
    • Related Report
      2014 Annual Research Report
  • [Presentation] レット症候群原因因子MeCP2による興奮性シナプス伝達制御の分子基盤2014

    • Author(s)
      辻村 啓太,入江 浩一郎,中嶋 秀行,江頭 良明,深尾 陽一郎,藤原 正幸,伊藤 雅之,高森 茂雄,中島 欽一
    • Organizer
      第37回日本神経科学大会
    • Place of Presentation
      パシフィコ横浜, 横浜
    • Year and Date
      2014-09-13
    • Related Report
      2014 Annual Research Report
  • [Presentation] 自閉症の神経科学研究:レット症候群の治療に向けた生物学的研究2013

    • Author(s)
      伊藤雅之
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      iichiko総合文化センター, 大分
    • Year and Date
      2013-05-31
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] MeCP2_e2 does not contribute Rett Syndrome Phenotypes but Essential for Placenta Development2013

    • Author(s)
      Itoh M, Tahimic CGT, Goto Y, Kurimasa A
    • Organizer
      Experimental Biology 2013
    • Place of Presentation
      Convention Center, Boston, MA
    • Year and Date
      2013-04-19 – 2013-04-24
    • Related Report
      2013 Annual Research Report
  • [Book] レット症候群 診療ガイドブック2015

    • Author(s)
      青天目信、伊藤雅之
    • Total Pages
      254
    • Publisher
      大阪大学出版会
    • Related Report
      2015 Annual Research Report 2014 Annual Research Report
  • [Book] 病理解剖検査. 小児神経科診断・治療マニアル(改訂第3版).2015

    • Author(s)
      伊藤雅之
    • Total Pages
      5
    • Publisher
      診断と治療社
    • Related Report
      2015 Annual Research Report

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Published: 2012-04-24   Modified: 2019-07-29  

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