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

2014 Fiscal Year Final Research Report

• 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
• 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

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.

Free Research Field

口腔生化学、分子生物学、細胞生物学