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

Understanding the common pathomechanisms underlying lysosomal and autophagic diseases

Research Project

Project/Area Number 17H05088
Research Category

Grant-in-Aid for Young Scientists (A)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionKawasaki Medical School

Principal Investigator

Otomo Takanobu  川崎医科大学, 医学部, 教授 (20742589)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥25,090,000 (Direct Cost: ¥19,300,000、Indirect Cost: ¥5,790,000)
Fiscal Year 2019: ¥8,060,000 (Direct Cost: ¥6,200,000、Indirect Cost: ¥1,860,000)
Fiscal Year 2018: ¥8,060,000 (Direct Cost: ¥6,200,000、Indirect Cost: ¥1,860,000)
Fiscal Year 2017: ¥8,970,000 (Direct Cost: ¥6,900,000、Indirect Cost: ¥2,070,000)
Keywordsリソソーム / オートファジー / 細胞内輸送 / リソソーム蓄積症 / ライソゾーム / リソソーム蓄積病
Outline of Final Research Achievements

Lysosomal disease is caused by impairment of lysosomal degradation system, but similar diseases are caused not only by reduction of lysosomal enzyme activity but also intracellular transport. We edited genes related to lysosomal functions or intracellular trafficking to prepare knock-out cell lines of these genes, and investigated cellular phenotypes. Our results showed that autophagy was significantly impaired only in a part of the lysosomal enzyme deficiency, and suggested that the mechanism of autophagy disorder among them was not uniform.

Academic Significance and Societal Importance of the Research Achievements

本研究により遺伝性希少疾患であるリソソーム病の疾患メカニズムの一端が明らかになり、今後のリソソームおよびリソソーム病研究を発展させるための細胞実験系や測定系が構築できたのは意義深い。また、リソソーム病に対する疾患特異的な治療法ではなく、共通の病態メカニズムを持つリソソーム病に対して疾患横断的に改善効果を与える手がかりとなる成果が得られ、今後本研究を発展させることで難病の治療法の開発につながることが期待される。

Report

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

    (8 results)

All 2020 2019 2018

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

  • [Journal Article] Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan2020

    • Author(s)
      Ikari Sumiko、Lu Shiou-Ling、Hao Feike、Imai Kenta、Araki Yasuhiro、Yamamoto Yo-hei、Tsai Chao-Yuan、Nishiyama Yumi、Shitan Nobukazu、Yoshimori Tamotsu、Otomo Takanobu、Noda Takeshi
    • Journal Title

      PLOS ONE

      Volume: 15 Issue: 3 Pages: 0230156-0230156

    • DOI

      10.1371/journal.pone.0230156

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.2020

    • Author(s)
      Kato K, Okuno Y, Vasilev FF, Otomo T, Oishi H, Muramatsu H, Kawano Y, Oka Y, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.
    • Journal Title

      Journal of Medical genetics

      Volume: 57 Issue: 4 Pages: 245-253

    • DOI

      10.1136/jmedgenet-2019-106213

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Mucopolysaccharidosis-Plus Syndrome2020

    • Author(s)
      Vasilev Filipp、Sukhomyasova Aitalina、Otomo Takanobu
    • Journal Title

      International Journal of Molecular Sciences

      Volume: 21 Issue: 2 Pages: 421-421

    • DOI

      10.3390/ijms21020421

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Understanding pathomechanisms of lysosomal storage disorders with cellular models using genome-editing technology2019

    • Author(s)
      Takanobu Otomo,Yukiko Kawakami, Filipp F. Vasilev, Junko Matsuda
    • Organizer
      米国先天代謝異常学会
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] INVESTIGATION OF THE PROTEIN STABILITY OF VPS33A, A RESPONSIBLE MOLECULE FOR MPSPS2019

    • Author(s)
      Vasilev F., Kawakami Y., Otomo T.
    • Organizer
      日本ライソゾーム病研究会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ライソゾーム関連遺伝子ノックアウト細胞における形態学的考察2019

    • Author(s)
      川上 由貴子、Filipp Vasilev、大友 孝信
    • Organizer
      日本ライソゾーム病研究会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ゲノム編集技術を用いた、ライソゾーム病の包括的理解への挑戦2018

    • Author(s)
      大友孝信、川上由貴子、Filipp Vasilev、松田純子
    • Organizer
      第60回日本先天代謝異常学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] Mucopolysaccharidosis-plus syndrome: report of two new cases2018

    • Author(s)
      Vasilev F., Kawakami Y., Gurinova E., Sukhomyasova A., Maksimova N., Matsuda J., Otomo T.
    • Organizer
      第60回日本先天代謝異常学会
    • Related Report
      2018 Annual Research Report

URL: 

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

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi