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Establishment and application of disease-specific iPS cells for Apert syndrome

Research Project

Project/Area Number 17K11948
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Orthodontics/Pediatric dentistry
Research InstitutionTokyo Dental College

Principal Investigator

Ishii Takenobu  東京歯科大学, 歯学部, 講師 (80433978)

Co-Investigator(Kenkyū-buntansha) 山口 朗  東京歯科大学, 歯学部, 客員教授 (00142430)
末石 研二  東京歯科大学, 歯学部, 教授 (00154427)
小野寺 晶子  東京歯科大学, 歯学部, 講師 (90637662)
齋藤 暁子  東京歯科大学, 歯学部, 助教 (90722835)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2017: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
KeywordsApert症候群 / iPS細胞 / FGFR2 / 疾患特異的iPS細胞 / 未分化間葉系幹細胞 / Gain of function / ゲノム編集
Outline of Final Research Achievements

Apert syndrome is a mutation in the fibroblast growth factor receptor (FGFR2) has been reported, in which the IgII domain mutation Ser252Trp is 2/3 and the IgIII domain mutation Pro253Arg is 1/3. Apert Syndrome is a genetic disorder that causes craniofacial deformity. A human-derived disease model has not yet been created, and the pathophysiology of this disease is largely unknown.
Therefore, we established disease-specific iPS cells from the oral mucosal epithelium or blood lymphocytes of patients with Apert syndrome, elucidated the mechanism of abnormal differentiation of these cells into bone or cartilage, and introduced iPS cells into which normal FGFR2 was introduced. This study will elucidate the pathogenic mechanism of Apert syndrome by confirming the induction of normal bone differentiation.

Academic Significance and Societal Importance of the Research Achievements

疾患特異的iPS 細胞の樹立は病態解明、治療法の開発、薬剤の開発などへの応用が可能であるが、現在までにApert疾患特異的iPS 細胞の樹立の報告はないため、新規性の高い研究である。
FGFR2 は人体の発生機序において多くの細胞機能を制御する重要な遺伝子であるため、本研究で得られる結果はApert 症候群のみならず多くの細胞生物分野にとって有意義な情報の提供を可能とする。特に、近年FGFR2 遺伝子は、スキルス胃癌、胆道癌、子宮体癌などの癌治療薬のターゲットとして注目されているので、本研究は、口腔顎顔面領域だけではなく全身的な新たな癌治療法の開発にも重要な結果を提供することが期待できる。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (6 results)

All 2019 2018 2017 Other

All Presentation (5 results) (of which Int'l Joint Research: 4 results) Remarks (1 results)

  • [Presentation] Induction of Osteoblasts and Chondrocytes from Apert Syndrome-specific iPS Cells.2019

    • Author(s)
      Takenobu Ishii
    • Organizer
      The 97rd IADR/AADR/CADR General Session & Exhibition
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Generation of disease-specific induced pluripotent stem cells from patients with Apert syndrome.2019

    • Author(s)
      Hiroyuki Ogura
    • Organizer
      The 2019 AAO Annual Session
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Establishment of Apert syndrome disease-specific iPS cells.2018

    • Author(s)
      Takenobu Ishii, Hiroyuki Ogura, Shoko Onodera, Kenji Sueishi, Toshifumi Azuma
    • Organizer
      96th IADR/PER General Session & Exhibition
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] Establishment of Apert syndrome disease-specific iPS cells.2018

    • Author(s)
      石井武展
    • Organizer
      the 2018 IADR/PER General Session & Exhibition
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Investigation of Apert syndrome with disease-specific iPS cells2017

    • Author(s)
      小倉弘之
    • Organizer
      第65回国際歯科研究学会日本部会(JADR)学術大会
    • Related Report
      2017 Research-status Report
  • [Remarks] コア研究 分子病態学研究部門

    • URL

      http://www.tdc.ac.jp/college/activity/tabid/527/Default.aspx

    • Related Report
      2018 Research-status Report

URL: 

Published: 2017-04-28   Modified: 2021-02-19  

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