Analysis of molecular pathology of Charcot-Marie-Tooth disease and search for therapeutic drugs

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461275
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Kagoshima University
• Principal Investigator: Okamoto Yuji 鹿児島大学, 医歯学域医学系, 講師 (60709658)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: Charcot-Marie-Tooth病 / 次世代シークエンサー / クルクミン

Outline of Final Research Achievements

We identified the effectiveness and mechanism of action of curcumin treatment in CMT model mice. It was also confirmed in model mice that curcumin reduces the endoplasmic reticulum stress response caused by abnormal protein accumulation with genetic mutation and alleviates apoptosis. In this study, we examined the administration of curcumin to humans. The primary problem in curcumin therapy is the low bioavailability, but we identified drugs with high bioavailability. We have prepared a system to conduct clinical trials for human during this research period. Most clinical trials other than CMT 1A are not done. We are also planning other types of CMT trials taking into account the efficacy of curcumin.
It is also important to identify the causative gene for treatment. We conducted comprehensive genetic diagnosis of CMT causative genes using next generation sequencers. As a result, 42 causative genes were identified in 23 (18%) of the 182 patients. I also found a new causative gene.

Free Research Field

神経内科学、分子生物学