Development of innovative treatments for epilepsy based upon its molecular pathomechanisms using patient iPS cells and novel genetically engineered animals.

2015 Fiscal Year Final Research Report

• Project/Area Number: 24249060
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Fukuoka University
• Principal Investigator: Hirose Shinichi 福岡大学, 医学部, 教授 (60248515)
• Co-Investigator(Renkei-kenkyūsha): Misumi Yoshio 福岡大学, 医学部, 准教授 (10148877) ; Araki Kimi 熊本大学, 生命資源研究・支援センター 疾患モデル, 教授 (90211705) ; Saito Ryo 福岡大学, 薬学部, 講師 (80122696) ; Takano Yukio 福岡大学, 薬学部, 教授 (50113246) ; Deshimaru Masanobu 福岡大学, 理学部, 准教授 (70309889) ; Inoue Ryuji 福岡大学, 医学部, 教授 (30232573) ; Katsurabayashi Shutaro 福岡大学, 薬学部, 准教授 (50435145)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: てんかん / iPS / 遺伝子 / けいれん

Outline of Final Research Achievements

This project was to elucidate the pathomechanisms of epilepsy and establish novel treatments based upon them. A number of genetic abnormalities were found and the responsible gene for alternative hemiplegia in childhood was also identified using next generation sequencing. Induced pluripotent stem cells (iPSc) were established from a patient with Dravet syndrome caused by an SCN1A mutation and accordingly the pathomechanisms of Dravet syndrome were uncovered. Furthermore, the mutation of the iPSc was generically repaired and the same mutation was introduced to the iPS cells established in reverse from a healthy individual. Mice harboring an Scn1a deletion were genetically engineered as were rats bearing Scn1a and Pcdh19 mutations. Now, screenings to find seeds for anti-epileptic drugs are underway using the established iPS cells and the genetically engineered animal models in this project.

Free Research Field

小児科学