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

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K11041
• 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, 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
• 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

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.

Free Research Field

分子遺伝学