| Project/Area Number |
21591312
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Yamagata University |
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Principal Investigator |
|
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| Co-Investigator(Kenkyū-buntansha) |
NAKAMURA Kazuyuki 鳥取大学, 医学部, 助教 (20436215)
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
GOTO Kaoru 山形大学, 医学部, 教授 (30234975)
MATSUMOTO Naomichi 横浜市立大学, 大学院・医学研究科, 教授 (80325638)
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| Project Period (FY) |
2009 – 2011
|
| Project Status |
Completed (Fiscal Year 2011)
|
| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | てんかん / ウエスト症候群 / 大田原症候群 / 介在ニューロン / 遺伝子 / ポリアラニン / 分子シャペロン / ARX |
|---|
| Research Abstract |
Two frameshift mutations in the terminal exon of the ARX gene were identified in two familial cases of idiopathic Ohtahara syndrome. The mutations demolish the aristaless domain, which activates its transcriptional function, and are supposed to be a gain-of-function mutation like an expansion mutation of the polyalanine tract. These findings revealed the molecular pathology of the relationship between Ohtahara syndrome and West syndrome, which was clinically assumed.
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