To treat refractory epilepsy with transplantation of neuros derived from iPS cells.

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K15532
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Fukuoka University
• Principal Investigator: Hirose Shinichi 福岡大学, 医学部, 教授 (60248515)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: てんかん / 遺伝子改変動物 / iPS細胞 / 細胞移植 / 分子病態

Outline of Final Research Achievements

As model animals representing refractory epilepsy, we have succeeded to genetically engineered mice bearing two different types of non-sense mutations of the Scn1a gene. Mutations of its human ortholog gene, SCN1A, cause Dravet syndrome, one of refractory epilepsies. Our genetically engineered mice exhibited severe seizures and premature death, both of which are seen in patients with Dravet syndrome. To obtain disease and healthy iPS cells based on the same genetic background, we have also genetically generated “Artificial Drave syndrome” iPS cells and “Artificial healthy” iPS cells with a gene editing technology. With these subjects, transplantation of neurons derived from the iPS cells generated is now being conducted to see effects on the phenotypes of the genetically engineered mice.

Free Research Field

神経内科

Academic Significance and Societal Importance of the Research Achievements

ドラベ症候群初めとする乳幼児のてんかん性脳症は、発症前診断が可能となって来たが、いまのところはなすすべもなく、乳児期に発症してしまうと難治性てんかんは必発で、精神発達遅滞は避けられない、今回の予備実験により、難治性てんかんの治療に新しい選択肢が生まれ、iPS細胞そのものの臨床医学応用の可能性が広がる。やがては、多数の患者・家族が救われる道につながると確信する。