TFEB mediated therapy for lysosomal storage diseases

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461525
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tottori University
• Principal Investigator: HIGAKI Katsumi 鳥取大学, 生命機能研究支援センター, 准教授 (90294321)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 転写因子 / ライソゾーム病 / 脂質代謝 / 病態解析 / 治療法開発 / シャペロン

Outline of Final Research Achievements

In this study, I have investigated the effect of TFEB on cellular pathology of lysosomal storage diseases. In the model cells of GM1-gangliosidosis and Gaucher disease, TFEB was localized in the nucleus and was up-regulated its transcriptional activities. When cells were overexpressed with TFEB, the activities of mutant lysosomal enzymes were enhanced. Moreover, TFEB with chaperone compounds showed synergetic effects on the enhancement of mutant enzyme activities in GM1-gangliosidosis cells. These results indicates the possibility that up-regulation of TFEB activity could induce a beneficial effect on cells with lysosomal storage disease.

Free Research Field

神経生物学