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Characterization of Gaucher disease by new gene mutation using patient-derived oral mucosa fibroblasts

Research Project

Project/Area Number 15K11041
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Functional basic dentistry
Research InstitutionThe University of Tokushima

Principal Investigator

MIYOSHI Keiko  徳島大学, 大学院医歯薬学研究部(歯学系), 准教授 (20304537)

Co-Investigator(Kenkyū-buntansha) 野間 隆文  徳島大学, 大学院医歯薬学研究部(歯学系), 教授 (40189428)
堀口 大吾  徳島大学, 大学院医歯薬学研究部(歯学系), 助教 (70304532)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywordsゴーシェ病 / 口腔粘膜線維芽細胞 / exome解析 / モディファイヤー検索 / intact cell GCase assay / エクソーム解析 / データマイニング / GCase活性調節タンパク質 / SiRNA スクリーニング / in cell 酵素活性解析 / GCase結合タンパク質 / SiRNA / ハイスループット酵素活性測定系 / 細胞内局在
Outline of Final Research Achievements

Gaucher disease (GD) is a lysosomal storage disorder with autosomal recessive inheritance. Previously we established the oral mucosa fibroblasts (OFs) derived from an “GD” patient and find he is “atypical GD” by whole exome sequencing. Together with OFs from his family, we found large number of SNPs. To minimize the candidate genes, we performed in silico analysis and transcriptome analysis, however, the molecular basis of GBA is limited. We also established the high-through-put assay system, intact cell GCase activity assay. SiRNA screening of modifier genes is prepared and analyzing, however, we could not be completed during this research period. In addition, we confirmed the gene structure and expression profile of GBA variants.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (4 results)

All 2017 2016 2015

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results,  Acknowledgement Compliant: 1 results) Presentation (3 results) (of which Invited: 1 results)

  • [Journal Article] Gene signature of human oral mucosa fibroblasts: comparison with dermal fibroblasts and induced pluripotent stem cells.2015

    • Author(s)
      Miyoshi K, Horiguchi T, Tanimura A, Hagita H, Noma T.
    • Journal Title

      Biomed Res Int.

      Volume: 2015 Pages: 1-19

    • DOI

      10.1155/2015/121575

    • NAID

      120006783219

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] 口腔粘膜線維芽細胞の代謝と細胞の特性 ~トランスクリプトーム解析からのアプローチ~2017

    • Author(s)
      三好圭子
    • Organizer
      第122回 日本解剖学会総会・全国学術集会
    • Place of Presentation
      長崎大学坂本キャンパス(長崎県・長崎市)
    • Year and Date
      2017-03-30
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] GBA 遺伝子5´側バリアントの発現パターン解析2017

    • Author(s)
      三好圭子, 萩田浩子, 谷村綾子, 堀口大吾, 野間隆文
    • Organizer
      2017 年度 生命科学系学会合同年次大会ConBio 2017 (神戸、兵庫)
    • Related Report
      2017 Annual Research Report
  • [Presentation] 新規異型ゴーシェ病メカニズムの探索2016

    • Author(s)
      三好圭子
    • Organizer
      平成27年度革新的特色研究シンポジウム「再生医学研究プラットフォームの構築と臨床応用への展開」
    • Place of Presentation
      徳島大学(徳島県徳島市)
    • Year and Date
      2016-01-27
    • Related Report
      2015 Research-status Report

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Published: 2015-04-16   Modified: 2019-03-29  

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