Establishment of disease model system using patient-derived oral mucosa fibroblast-iPSCs and development of new therapy

• Project/Area Number: 24592801
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Functional basic dentistry
• Research Institution: The University of Tokushima
• Principal Investigator: MIYOSHI Keiko 徳島大学, ヘルスバイオサイエンス研究部, 講師 (20304537)
• Co-Investigator(Kenkyū-buntansha): NOMA Takafumi 徳島大学, 大学院ヘルスバイオサイエンス研究部, 教授 (40189428)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000); Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 遺伝学 / ゴーシェ病 / 口腔粘膜線維芽細胞 / 疾患特異的iPS細胞 / 口腔粘膜線維芽細胞の特性 / 疾患特異的口腔粘膜由来iPS細胞

Outline of Final Research Achievements

Gaucher disease (GD) is one of the rare inherited lysosomal storage disorders In this study, we established the human induced pluripotent stem cells (iPSCs) from oral mucosa fibroblasts (OFs) derived from a patient diagnosed as “GD”. We also screened the SNPs of GBA1 gene using OFs, and found that this is an atypical GD-type. Furthermore, we found OFs were also reproducible materials for GCase activity. OFs have high lysosome related gene expressions similar to dermal fibroblasts, which used for checking GCase activity in the clinics. Therefore, we propose that OFs are suitable materials for the study for lysosomal disease.

Research Products

• [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: 印刷中
  • NAID: 120006783219
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Presentation] 皮膚線維芽細胞, iPS細胞との網羅的遺伝子発現の比較解析. (2015)
  • Author(s): 三好圭子, 堀口大吾, 谷村綾子，萩田浩子, 野間隆文.
  • Organizer: 第14回日本再生医療学会総会
  • Place of Presentation: パシフィコ横浜（神奈川県横浜市）
  • Year and Date: 2015-03-19 – 2015-03-21
• [Presentation] Gaucher disease caused by possible atypical mechanism. (2015)
  • Author(s): Miyoshi K, Horiguchi T, Tanimura A, Hagita H, Toda Y, Kagami S, Mori K, Tsuji D, Itoh K, and Noma T.
  • Organizer: Gordon Research Conference, Lysosomal Diseases
  • Place of Presentation: Galveston, TX, USA
  • Year and Date: 2015-03-15 – 2015-03-20
• [Presentation] 新規異型ゴーシェ病疾患メカニズム解明の試み (2015)
  • Author(s): 三好圭子
  • Organizer: 平成26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: 2015-03-04
• [Presentation] 口腔粘膜線維芽細胞の有用性とiPS 細胞を用いた再生歯科学へのアプローチ (2014)
  • Author(s): 三好圭子
  • Organizer: 第 12 回日本再生歯科医 学会学術大会・総会
  • Place of Presentation: 徳島大学（徳島県徳島市）
  • Year and Date: 2014-08-26
• [Presentation] 口腔粘膜線維芽細胞を用いた疾患iPS細胞の樹立と今後の展望 -口腔から再生医学・再生医療をめざして-
  • Author(s): 三好圭子
  • Organizer: 第10回HBS公開シンポジウム「再生医学研究の現状と臨床応用への課題」
  • Place of Presentation: 徳島大学 長井記念ホール（徳島県）
  • Invited
• [Presentation] 疾患iPS細胞の樹立と遺伝子変異の同定
  • Author(s): 三好圭子
  • Organizer: 平成２５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及び産官学連携推進報告会」
  • Place of Presentation: 徳島大学 藤井節郎記念ホール（徳島県）