Research on molecular pathogenesis and next-generation therapeutic agent for dystonia-parkinsonism

2014 Fiscal Year Final Research Report

• Project/Area Number: 24390223
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: The University of Tokushima
• Principal Investigator: KAJI Ryuji 徳島大学, 大学院ヘルスバイオサイエンス研究部, 教授 (00214304)
• Co-Investigator(Kenkyū-buntansha): KAWARAI Toshitaka 徳島大学, 大学院ヘルスバイオサイエンス研究部, 講師 (50614137) ; GOTO Satoshi 徳島大学, 大学院ヘルスバイオサイエンス研究部, 特任教授 (50240916)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: ジストニア / A2-NTX / ストリオゾーム / 基底核 / ボツリヌス毒素

Outline of Final Research Achievements

We performed genetic testing for the currently-known DYT genes and found mutations in 18 out of 61 cases (29.5%). Whole exome sequencing in two patients demonstrated a new candidate gene for dystonia, which is related to epigenetics. We are now analysing the biological abnormalities using conditional knock-out mice. In the study of DYT1 model mice, we found a down-regulation of mu-opioid receptor dominant in striosome, and are now confirming this using neuronal cell culture. As for A2NTX, the next generation botulinum toxin with high safety and efficacy than onabotulinumtoxinA (BOTOX), we finalized the patent applications all over the world by adding animal and human data.

Free Research Field

神経内科