2017 Fiscal Year Final Research Report
Drug discovery study improves the outcomes of epileptic encephalopathy
| Project/Area Number |
15K09628
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
CHIYONOBU Tomohiro 京都府立医科大学, 医学(系)研究科(研究院), 助教 (40571659)
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| Research Collaborator |
YOSHIDA Michiko
YAMASHITA Satoshi
MAEDA Hiroshi
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | てんかん性脳症 / iPS細胞 / 発達遅滞 |
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| Outline of Final Research Achievements |
We have partially elucidated the pathophysiology of two examples of epileptic encephalopathies, Ohtahara syndrome and Dravet syndrome, using patient-derived induced pluripotent stem (iPS) cells. Ohtahara syndrome, which is caused by mutation of the STXBP1 gene, was found to decrease levels of syntaxin-1, which in turn leads to localized abnormalities. In addition, Dravet syndrome, which is caused by mutation of the SCN1A gene, was found to increase levels of tyrosine hydroxylase, accelerating dopamine synthesis. Compounds that can improve the relevant cellular phenotypes in vitro could form the foundation of novel treatment to improve outcomes in epileptic encephalopathy.
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| Free Research Field |
小児神経学
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