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Research of diagnostic marker of autism spectrum disorders based on the mirror neuron failure hypothesis.

Research Project

Project/Area Number 23791313
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Psychiatric science
Research InstitutionNiigata University

Principal Investigator

ENDO Taro  新潟大学, 医歯学総合病院, 講師 (70515759)

Project Period (FY) 2011 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords自閉症スペクトラム障害 / ミラーニューロン / 近赤外線スペクトロスコピー(NIRS) / オキシトシン受容体遺伝子 / セロトニン1A遺伝子 / 受容体TPH2遺伝子 / 発達障害 / 脳神経画像 / 分子遺伝 / 近赤外線スペクトロスコピー
Research Abstract

The purpose of this study is to elucidate the biological markers that allow very early diagnosis of ASD based on the MNS failure hypothesis. We measured the MNS activity non-invasively using the NIRS and investigated the relationship between the intermediate phenotypes and genetic polymorphisms involved in brain development of ASD. In the NIRS study using the imitation task, ASD group disappeared the MNS activity in the left frontal lobe advantage. The gene analysis, the polymorphism of oxytocin receptor gene is related to a decrease in N-acetylaspartate/creatine ratio of the right medial temporal lobe and the failure of imitation of ASD, and the polymorphism of 5-HT 1A receptor gene is associated with a stereotyped repetitive behavior revealed. In association studies, we identified a missense mutation in the gene TPH2. The failure of the MNS in ASD detected by NIRS, to be useful in the early diagnosis of ASD was suggested. Further, we could identify some of the genetic polymorphism associated with intermediate phenotypes ASD or disease. Combination of these diagnostic imaging and genetic, may be a biological marker that allows for very early diagnosis of ASD.

Report

(3 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Research-status Report
  • Research Products

    (22 results)

All 2012 2011

All Journal Article (8 results) (of which Peer Reviewed: 8 results) Presentation (14 results)

  • [Journal Article] A detailed association analysis between he tryptophan hydroxylase 2 (TPH2) gene and autism spectrum disorders in a Japanese population2012

    • Author(s)
      Egawa J, Watanabe Y, Nunokawa A, Endo T, Kaneko N, Tamura R, Sugiyama T, Someya T
    • Journal Title

      Psychiatry Res

      Volume: 196(2-3) Pages: 320-2

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Influence of the 5-HTR1A C-1019G polymorphism on clinical phenotypes of autism spectrum disorders.2012

    • Author(s)
      Egawa J, Endo T, Tamura R, Masuzawa N, Fukui N, Sugai T, Someya T
    • Journal Title

      Psychiatry Res

      Volume: 198(2) Pages: 336-7

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Decreased leftward bias of prefrontal activity in autism spectrum disorder revealed by functional near-infrared spectroscopy.2012

    • Author(s)
      Tamura R, Kitamura H, Endo T, Abe R, Someya T
    • Journal Title

      Psychiatry Res

      Volume: 203(2-3) Pages: 237-40

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association between OXTR and clinical phenotypes of autism spectrum disorders2012

    • Author(s)
      Egawa J, Watanabe Y, Endo T, Tamura R, Masuzawa N, Someya T
    • Journal Title

      Psychiatry Res

      Volume: S0165-1781(12) Pages: 714-7

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association between OXTR and clinical phenotypes of autism spectrum disorders.2012

    • Author(s)
      Egawa J.
    • Journal Title

      Psychiatry Research

      Volume: S0165-1781 Pages: 714-717

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Decreased leftward bias of prefrontal activity in autism spectrum disorder revealed by functional near-infrared spectroscopy.2012

    • Author(s)
      Tamura R.
    • Journal Title

      Psychiatry Research

      Volume: 203 Pages: 237-240

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Influence of the 5-HTR1A C-1019G polymorphism on clinical phenotypes of autism spectrum disorders.2012

    • Author(s)
      Egawa J.
    • Journal Title

      Psychiatry Research

      Volume: 198 Pages: 336-337

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A detailed association analysis between the tryptophan hydroxylase 2 (TPH2) gene and autism spectrum disorders in a Japanese population.2012

    • Author(s)
      Egawa J.
    • Journal Title

      Psychiatry Research

      Volume: 196 Pages: 320-322

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Presentation] 新潟県新潟市就学前検診における広汎性発達障害の実態調査2012

    • Author(s)
      林剛丞、遠藤太郎、田村立、江川純、杉本篤言、折目直樹、染矢俊幸
    • Organizer
      第108回日本小児精神神経学会
    • Place of Presentation
      神戸市
    • Year and Date
      2012-11-11
    • Related Report
      2012 Final Research Report
  • [Presentation] セロトニン受容体1A遺伝子多型の自閉症スペクトラム障害における臨床表現型への影響2012

    • Author(s)
      江川純、遠藤太郎、田村立、杉本篤言、増澤菜生、染矢俊幸
    • Organizer
      第108回日本小児精神神経学会
    • Place of Presentation
      神戸市
    • Year and Date
      2012-11-10
    • Related Report
      2012 Final Research Report
  • [Presentation] 自閉症スペクトラム障害における一時視覚野優位の視覚認知処理2012

    • Author(s)
      長谷川直哉、北村秀明、村上博淳、亀山茂樹、笹川陸男、江川純、田村立、遠藤太郎、染矢俊幸
    • Organizer
      第34回日本生物学的精神医学会
    • Place of Presentation
      神戸市
    • Year and Date
      2012-09-29
    • Related Report
      2012 Final Research Report
  • [Presentation] Rare misssense variations of TPH2 and risk of autism: Exon resequensing and assosiation analysis2012

    • Author(s)
      Egawa J, Watanabe Y, Nunokawa A, Endo T, Kaneko N, Tamura R, Sugiyama T, Someya T
    • Organizer
      11th Biennial Meeting of the Asian Pacific Society for Neurochemistry and 55th Annual Meeting of the Japanese Society for Neurochemistry
    • Place of Presentation
      Kobe
    • Related Report
      2012 Final Research Report
  • [Presentation] Rare misssense variations of TPH2 and risk of autism: Exon resequensing and assosiation analysis.2012

    • Author(s)
      Egawa J.
    • Organizer
      11th Biennial Meeting of the Asian Pacific Society for Neurochemistry and 55th Annual Meeting of the Japanese Society for Neurochemistry
    • Place of Presentation
      Kobe
    • Related Report
      2012 Annual Research Report
  • [Presentation] 自閉症スペクトラム障害における一時視覚野優位の視覚認知処理2012

    • Author(s)
      長谷川直哉
    • Organizer
      第34回日本生物学的精神医学会
    • Place of Presentation
      神戸
    • Related Report
      2012 Annual Research Report
  • [Presentation] セロトニン受容体1A遺伝子多型の自閉症スペクトラム障害における臨床表現型への影響2012

    • Author(s)
      江川純
    • Organizer
      第108回日本小児精神神経学会
    • Place of Presentation
      神戸
    • Related Report
      2012 Annual Research Report
  • [Presentation] 新潟県新潟市就学前検診における広汎性発達障害の実態調査2012

    • Author(s)
      林剛丞
    • Organizer
      第108回日本小児精神神経学会
    • Place of Presentation
      神戸
    • Related Report
      2012 Annual Research Report
  • [Presentation] 広汎性発達障害の臨床像の特徴と各サブタイプ間の差異:小児自閉症評価尺度(CARS)を用いた因子分析に基づく検討2011

    • Author(s)
      田村立、遠藤太郎、江川純、染矢俊幸
    • Organizer
      第31回日本精神科診断学会
    • Place of Presentation
      松本市
    • Year and Date
      2011-11-19
    • Related Report
      2012 Final Research Report
  • [Presentation] トリプトファン水酸化酵素2(TPH2)遺伝子と広汎性発達障害との関連2011

    • Author(s)
      江川純、遠藤太郎、田村立、増澤菜生、杉山登志郎、染矢俊幸
    • Organizer
      第105回日本小児精神神経学会
    • Place of Presentation
      新潟市
    • Year and Date
      2011-06-19
    • Related Report
      2012 Final Research Report
  • [Presentation] 広汎性発達障害における利き手と視床体積との関連2011

    • Author(s)
      江川純、遠藤太郎、田村立、染矢俊幸
    • Organizer
      第105回日本小児精神神経学会
    • Place of Presentation
      新潟市
    • Year and Date
      2011-06-19
    • Related Report
      2012 Final Research Report
  • [Presentation] トリプトファン水酸化酵素2(TPH2)遺伝子と広汎性発達障害との関連2011

    • Author(s)
      江川純、遠藤太郎、田村立、増澤菜生、杉山登志郎、染矢俊幸
    • Organizer
      第105回日本小児精神神経学会
    • Place of Presentation
      朱鷺メッセ(新潟市)
    • Related Report
      2011 Research-status Report
  • [Presentation] 広汎性発達障害における利き手と視床体積との関連2011

    • Author(s)
      江川純、遠藤太郎、田村立、染矢俊幸
    • Organizer
      第105回日本小児精神神経学会
    • Place of Presentation
      朱鷺メッセ(新潟市)
    • Related Report
      2011 Research-status Report
  • [Presentation] 広汎性発達障害の臨床像の特徴と各サブタイプ間の差異:小児自閉症評価尺度(CARS)を用いた因子分析に基づく検討2011

    • Author(s)
      田村立、遠藤太郎、江川純、染矢俊幸
    • Organizer
      第31回日本精神科診断学会
    • Place of Presentation
      信州大学医学部附属病院外来棟(松本市)
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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