2014 Fiscal Year Final Research Report
Research on PCDH19 female epilepsy by using patient-derived iPS cells and a rat model
Project/Area Number |
24791095
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
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Research Institution | Jikei University School of Medicine (2013-2014) Fukuoka University (2012) |
Principal Investigator |
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Project Period (FY) |
2012-04-01 – 2015-03-31
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Keywords | てんかん / 女性 / 遺伝子 / 疾患モデル動物 / 免疫 / 血液脳関門 / 接着分子 / 小児 |
Outline of Final Research Achievements |
To elucidate the pathogenic mechanisms and effective treatments of PCDH19 female epilepsy, we established 1) patient-derived iPS cells and 2) a model rat, and 3) further investigated the clinical aspects of newly identified patients. 1) We compared iPS cell-derived neurons among a normal control cell line, paternal X (mutated PCDH19)-active patient cell lines, and maternal X (wild type PCDH19)-active patient cell lines focusing on their morphology and PCDH19 expression. However, no significant pathogenic alteration was detected. 2) A Pcdh19-knockout rat was successfully established by using the TALEN technology and will be used for our future research. 3) We newly identified more than 20 Japanese patients and deepened our understanding of the clinical aspects of PCDH19 female epilepsy, specifically initial seizure characteristics, an excellent efficacy of corticosteroids for seizure clusters, and a possible involvement of immune processes in the pathogenic mechanisms.
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Free Research Field |
医歯薬学
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