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Molecular mechanism of autism based on abnormalities of synaptic genes expression using iPS cells of Rett syndrome

Research Project

Project/Area Number 25860852
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionUniversity of Yamanashi

Principal Investigator

MIYAKE Kunio  山梨大学, 総合研究部, 助教 (60550712)

Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsエピジェネティクス / 発達障害 / レット症候群 / iPS細胞 / DNAメチル化 / ヒストン修飾 / 自閉症 / MECP2 / MeCP2
Outline of Final Research Achievements

We investigated the expression mechanisms of MeCP2 target genes in the neuronal cell lines and induced pluripotent stem cells (iPSCs) derived from Rett syndrome patients. As a result, we found that Lin7a gene was activated by MeCP2. Furthermore, we found that gene expression pattern was different between MeCP2 positive iPSCs-derived neural cells and MeCP2 negative cells. These results suggest that MeCP2 has an important function during neuronal differentiation and synaptic maturation.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (21 results)

All 2015 2014 2013 Other

All Journal Article (9 results) (of which Peer Reviewed: 6 results,  Open Access: 2 results) Presentation (8 results) (of which Invited: 1 results) Remarks (2 results) Patent(Industrial Property Rights) (2 results)

  • [Journal Article] Understanding the epigenetics of neurodevelopmental disorders and DOHaD2015

    • Author(s)
      Kubota T, Miyake K, Hariya N, Mochizuki K
    • Journal Title

      J Dev Orig Health Dis

      Volume: 1 Pages: 1-9

    • Related Report
      2014 Annual Research Report
  • [Journal Article] A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele2015

    • Author(s)
      Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, Yoshida K, Wada T, Miyake K, Kubota T, Okuno Y, Muramatsu H, Adachi Y, Miyano S, Ogawa S, Kojima S, Kanegane H
    • Journal Title

      J Clin Immunol

      Volume: 35(3) Issue: 3 Pages: 244-8

    • DOI

      10.1007/s10875-015-0144-6

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular mechanism in Rett syndrome2015

    • Author(s)
      Miyake K, Kubota T
    • Journal Title

      Folia Pharmacologica Japonica

      Volume: 145 Issue: 4 Pages: 178-182

    • DOI

      10.1254/fpj.145.178

    • NAID

      130005061558

    • ISSN
      0015-5691, 1347-8397
    • Related Report
      2014 Annual Research Report
  • [Journal Article] Expressions of tight junction proteins Occludin and Claudin-1 are under the circadian control in the mouse large intestine: implications in intestinal permeability and susceptibility to colitis2014

    • Author(s)
      Kyoko OO, Kono H, Ishimaru K, Miyake K, Kubota T, Ogawa H, Okumura K, Shibata S, Nakao A
    • Journal Title

      PLoS One

      Volume: 9(5) Issue: 5 Pages: e98016-e98016

    • DOI

      10.1371/journal.pone.0098016

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 神経疾患のエピゲノム―脳機能障害を理解する新しい指標2014

    • Author(s)
      久保田 健夫, 平澤 孝枝, 三宅 邦夫
    • Journal Title

      BRAIN and NERVE

      Volume: 66(5) Pages: 591-7

    • NAID

      40020089078

    • Related Report
      2014 Annual Research Report
  • [Journal Article] Epigenetics as a basis for diagnosis of neurodevelopmental disorders: challenges and opportunities.2014

    • Author(s)
      Kubota T, Miyake K, Hariya M, Mochizuki K.
    • Journal Title

      Expert Rev Mol Diagn

      Volume: 14 Issue: 6 Pages: 685-697

    • DOI

      10.1586/14737159.2014.925805

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome2013

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

      PLoS ONE

      Volume: 8 Issue: 6 Pages: e66729-e66729

    • DOI

      10.1371/journal.pone.0066729

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Oligodendrocyte transcription factor 1 (Olig1) is a Smad cofactor involved in cell motility induced by transforming growth factor-β2013

    • Author(s)
      Motizuki M, Isogaya K, Miyake K, Ikushima H, Kubota T, Miyazono K, Saitoh M, Miyazawa K.
    • Journal Title

      Journal of Biological Chemistry

      Volume: 288 Issue: 26 Pages: 18911-18922

    • DOI

      10.1074/jbc.m113.480996

    • Related Report
      2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] The role of epigenetics in Rett sydro me2013

    • Author(s)
      Kubota T, Miyake K, Hirasawa T
    • Journal Title

      Epigenomics

      Volume: 5 Issue: 5 Pages: 583-592

    • DOI

      10.2217/epi.13.54

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] DNA のメチル化修飾を検出できるアニオン交換 HPLC カラムの臨床応用2014

    • Author(s)
      22.武居 美沙、三宅 邦夫、山田 有理子、與谷 卓也、久保田 健夫
    • Organizer
      日本人類遺伝学会第59回大会
    • Place of Presentation
      タワーホール船堀 (江戸川区・東京)
    • Year and Date
      2014-11-19 – 2014-11-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] 発達障害とエピジェネティクス2014

    • Author(s)
      三宅 邦夫
    • Organizer
      日本ストレス学会学術総会 第30回記念大会
    • Place of Presentation
      日本大学文理学部百周年記念館(世田谷区・東京)
    • Year and Date
      2014-11-07 – 2014-11-08
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Clinical application of an anion exchange HPLC column that distinguishes DNA methylation status2014

    • Author(s)
      K. Miyake, Y. Yamada, T. Yotani, T. Kubota
    • Organizer
      ASHG
    • Place of Presentation
      San Diego (USA)
    • Year and Date
      2014-10-18 – 2014-10-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] Change of neuronal gene expression by administration of various anti-depressant in primary neocortical neurons2014

    • Author(s)
      N. A. Nguyen, K. Miyake, T. Kubota
    • Organizer
      ASHG
    • Place of Presentation
      San Diego (USA)
    • Year and Date
      2014-10-18 – 2014-10-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] 変異体マウスを用いた翻訳伸長因子遺伝子欠損の血液学的影響2014

    • Author(s)
      18.庄司 陽平,久保田 悠一,井上 克枝,久保田 健夫,三宅 邦夫,葛西 宏威,武川 克志,手塚 英夫.
    • Organizer
      第60回日本実験動物学会総会
    • Place of Presentation
      つくば国際会議場 (茨城県・つくば市)
    • Year and Date
      2014-05-15 – 2014-05-17
    • Related Report
      2014 Annual Research Report
  • [Presentation] Rett症候群における病態分子機構2014

    • Author(s)
      三宅 邦夫
    • Organizer
      日本薬理学会
    • Place of Presentation
      仙台国際センター (宮城県仙台市)
    • Related Report
      2013 Research-status Report
  • [Presentation] Epigenomic differences in monozygotic twins with Rett syndrome2013

    • Author(s)
      三宅 邦夫
    • Organizer
      日本エピジェネティクス研究会
    • Place of Presentation
      奈良県新公会堂 (奈良県奈良市)
    • Related Report
      2013 Research-status Report
  • [Presentation] 重症度差異のある一卵性双生児レット症候群患者におけるエピゲノム比較2013

    • Author(s)
      三宅 邦夫
    • Organizer
      日本神経科学会
    • Place of Presentation
      国立京都国際会館 (京都府京都市)
    • Related Report
      2013 Research-status Report
  • [Remarks] 環境遺伝医学講座

    • URL

      http://www.epigenetmed.com/

    • Related Report
      2014 Annual Research Report
  • [Remarks] 環境遺伝医学講座

    • URL

      http://www.epigenetmed.com/

    • Related Report
      2013 Research-status Report
  • [Patent(Industrial Property Rights)] インプリンティング疾患の診断に有効な染色体機能異常の検査方法2014

    • Inventor(s)
      久保田健夫、三宅邦夫
    • Industrial Property Rights Holder
      久保田健夫、三宅邦夫
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2014-165148
    • Filing Date
      2014-08-14
    • Related Report
      2014 Annual Research Report
  • [Patent(Industrial Property Rights)] 幹細胞の品質管理方法2014

    • Inventor(s)
      與谷卓也、山田有里子、砂村栄一郎、久保田健夫、三宅邦夫
    • Industrial Property Rights Holder
      與谷卓也、山田有里子、砂村栄一郎、久保田健夫、三宅邦夫
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2014-213137
    • Filing Date
      2014-10-17
    • Related Report
      2014 Annual Research Report

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Published: 2014-07-25   Modified: 2019-07-29  

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