• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Analysis of neuropathogenesis for autism spectrum disorders caused by mutation of SHANK3 gene.

Research Project

Project/Area Number 20591239
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionNational Center of Neurology and Psychiatry

Principal Investigator

UCHINO Shigeo  National Center of Neurology and Psychiatry, 神経研究所代謝研究部, 室長 (30392434)

Co-Investigator(Kenkyū-buntansha) ITOH Masayuki  (独)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(Renkei-kenkyūsha) OKAMOTO Nobuhiko  大阪府立母子保健総合医療センター研究所, 小児科医, 参事 (30416242)
NAMBA Takashi  (独)国立精神・神経医療研究センター, 神経研究所代謝研究部, 流動研究員 (70462794)
WAGA Chikako  (独)国立精神・神経医療研究センター, 神経研究所代謝研究部, 流動研究員 (80462795)
GONDA Yuko  (独)国立精神・神経医療研究センター, 神経研究所代謝研究部, 流動研究員 (60424181)
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords広汎性発達障害 / シナプス / Shank3 / エピジェネティクス / DNAメチル化、 / MeCP2 / ゲノム / 脳発達 / 自閉症 / 精神遅滞 / 22q13.3欠失症候群 / SHANK3 / 言語障害 / 遺伝子診断
Research Abstract

Cumulative evidence has shown that abnormal synaptic function represents neuropathogenesis of autism spectrum disorders (ASDs). In this study, we focused on SHANK3 gene, which encodes a synaptic molecule and is identified as a responsible gene for 22q13.3 deletion syndrome. We found novel mutations within CpG islands of SHANK3 gene in ASDs patients, and confirmed the expression of several variants of SHANK3 transcripts from the CpG island region. Further studies show that SHANK3 variants are involved in synaptic dysfunction and autistic behaviours.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (25 results)

All 2011 2010 2009 2008 Other

All Journal Article (10 results) (of which Peer Reviewed: 10 results) Presentation (11 results) Remarks (4 results)

  • [Journal Article] Novel variants of the SHANKS gene in Japanese autistic patients with severe delayed speech development.2011

    • Author(s)
      Waga C, Okamoto N, Ondo Y, Goto Y, Kohsaka S, Uchino S
    • Journal Title

      Psychiatr.Genet.

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Inhibition of NMDA receptor activity resulted in aberrant neuronal migration caused by delayed morphological development in the mouse neocortex.2010

    • Author(s)
      Uchino S, Hirasawa T, Tabata H, Gonda Y, Waga C, Ondo Y, Naka j ima K, Kohsaka S
    • Journal Title

      Neuroscience 169

      Pages: 609-618

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] PEDF up-regulation induced by memantine, an NMDA receptor antagonist, is involved in the increased proliferation hippocampal progenitor cells.2010

    • Author(s)
      Namba T, Yabe T, Gonda Y, Ichikawa N, Sanagi T, Hirasawa E, Mochizuki H, Kohsaka S, Uchino S
    • Journal Title

      Neuroscience 167

      Pages: 372-383

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Inhibition of N-methyl-D-aspartate receptor activity resulted in aberrant neuronal migration caused by delayed morphological development in the mouse neocortex.2010

    • Author(s)
      内野茂夫, 他
    • Journal Title

      Neuroscience

      Volume: 169 Pages: 609-618

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Appearance of phagocytic microglia adjacent to motoneurons in spinal cord tissue from a presymptomatic transgenic rat model of amyotrophic lateral sclerosis.2010

    • Author(s)
      佐柳友規, 他
    • Journal Title

      Journal of Neuroscience Research

      Volume: 88 Pages: 2736-2746

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] PEDF up-regulation induced by memantine, an NMDA receptor antagonist, is involved in the increased proliferation hippocampal progenitor cells2010

    • Author(s)
      灘波隆志
    • Journal Title

      Neuroscience 167

      Pages: 372-383

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The Alzheimer' s disease drug memantine increases the number of radial glia-like progenitor cells in the adult hippocampus.2009

    • Author(s)
      Namba T, Maekawa T, Yuasa S, Kohsaka S, Uchino S
    • Journal Title

      GLIA 57

      Pages: 1082-1090

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] NMDA receptor antagonist memantine promotes cell proliferation and production of mature granule neurons in the adult hippocampus.2009

    • Author(s)
      OMaekawa T, Namba T, Suzuki E, Yuasa S, Kohsaka S, Uchino S
    • Journal Title

      Neurosci.Res. 63

      Pages: 259-266

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] NMDA receptor antagonist memantine promotes cell proliferation and production of mature granule neurons in the adult hippocampus2009

    • Author(s)
      前川素子
    • Journal Title

      Neuroscience Research 63

      Pages: 259-266

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The Alzheimer's disease drug memantine increases the number of radial glial-like progenitor cells in the adult hippocampus2009

    • Author(s)
      灘波隆志
    • Journal Title

      GLIA 57

      Pages: 1082-1090

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] 自閉症関連遺伝子5朋N第3のマウス脳発達過程におけるメチル化動態解析およびその分子基盤に関する研究2010

    • Author(s)
      和賀央子、浅野弘嗣、加藤怜子、伊藤雅之、後藤雄一、内野茂夫、高坂新一
    • Organizer
      第40回日本神経精神薬理学会・第20回臨床精神神経薬理学会
    • Place of Presentation
      仙台
    • Year and Date
      2010-09-16
    • Related Report
      2010 Final Research Report
  • [Presentation] 自閉症関連遺伝子SHANK3のマウス脳発達過程におけるメチル化動態解析およびその分子基盤に関する研究2010

    • Author(s)
      和賀央子, 他
    • Organizer
      第40回日本神経精神薬理学会・第20回臨床精神神経薬理学会
    • Place of Presentation
      仙台国際センター
    • Year and Date
      2010-09-16
    • Related Report
      2010 Annual Research Report
  • [Presentation] マウス脳発達過程における自閉症関連遺伝子SHANK3のメチル化動態解析2010

    • Author(s)
      和賀央子、浅野弘嗣、加藤怜子、伊藤雅之、後藤雄一、内野茂夫、高坂新一
    • Organizer
      第33回日本神経科学会・第53回日本神経化学会・第20回日本神経回路学会
    • Place of Presentation
      神戸
    • Year and Date
      2010-09-02
    • Related Report
      2010 Final Research Report
  • [Presentation] マウス脳発達過程における自閉症関連遺伝子SHANK3のメチル化動態解析2010

    • Author(s)
      和賀央子, 他
    • Organizer
      第33回日本神経科学会・第53回日本神経化学会・第20回日本神経回路学会
    • Place of Presentation
      神戸コンベンションセンター
    • Year and Date
      2010-09-02
    • Related Report
      2010 Annual Research Report
  • [Presentation] Novel mutations in the SHANKS gene in autistic patients with severe delayed speech development.2009

    • Author(s)
      Uchino S, Waga C, Okamoto N, Goto Y, Kohsaka S
    • Organizer
      The 22nd Biennial Meeting of the International Society for Neurochemistry (ISN)/Asian Pacific Society for Neurochemistry (APSN) Joint Meeting.
    • Place of Presentation
      Busan, Korea
    • Year and Date
      2009-08-27
    • Related Report
      2010 Final Research Report
  • [Presentation] Novel mutations in the SHNAK3 gene in autistic patients with severe delayed speech development2009

    • Author(s)
      内野茂夫
    • Organizer
      The 22^<nd> Biennial Meeting of the International Society for Neurochemistry/Asia Pacific Society for Neurochemistry Joint Meeting
    • Place of Presentation
      BEXCO Busan, Korea
    • Year and Date
      2009-08-27
    • Related Report
      2009 Annual Research Report
  • [Presentation] 自閉症患者におけるシナプス機能分子SHANK3の遺伝子解析2008

    • Author(s)
      和賀央子
    • Organizer
      日本生化学大会・日本分子生物学会年会
    • Place of Presentation
      神戸
    • Year and Date
      2008-12-11
    • Related Report
      2008 Annual Research Report
  • [Presentation] 自閉症患者におけるシナプス機能分子SHANK3の遺伝子解析2008

    • Author(s)
      内野茂夫、和賀央子、岡本伸彦、高坂新一
    • Organizer
      第51回日本神経化学会、シンポジウム「発達障害の神経化学」
    • Place of Presentation
      富山
    • Year and Date
      2008-09-13
    • Related Report
      2010 Final Research Report
  • [Presentation] 自閉症患者におけるシナプス機能分子SHANK3の遺伝子解析2008

    • Author(s)
      内野茂夫
    • Organizer
      日本神経化学会 シンポジウム
    • Place of Presentation
      富山
    • Year and Date
      2008-09-13
    • Related Report
      2008 Annual Research Report
  • [Presentation] SHANK3異常症例の臨床的検討2008

    • Author(s)
      岡本伸彦、内野茂夫
    • Organizer
      第50回日本小児神経学会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-29
    • Related Report
      2010 Final Research Report
  • [Presentation] SHANK3異常症例の臨床的検討2008

    • Author(s)
      岡本伸彦
    • Organizer
      日本小児神経学会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-29
    • Related Report
      2008 Annual Research Report
  • [Remarks] ホームページ等

    • Related Report
      2010 Final Research Report
  • [Remarks] 研究部ホームページ

    • URL

      http://www.nenp.go.jp/nin/guide/r_tai/index.html

    • Related Report
      2010 Final Research Report
  • [Remarks] 本研究により得られたゲノム解析結果DNA Data Bank of Japan (DDBJ)ヒト:AB569469マーモセット:AB447516

    • Related Report
      2010 Final Research Report
  • [Remarks]

    • URL

      http://www.nenp.go.jp/nin/guide/r_tai/index.html

    • Related Report
      2010 Annual Research Report

URL: 

Published: 2008-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi