| Project/Area Number |
21390310
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | Kyoto University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
HEIKE Toshio 京都大学, 医学研究科, 教授 (90190173)
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| Co-Investigator(Renkei-kenkyūsha) |
OHARA Osamu かずさDNA研究所, ヒトゲノム究部 (20370926)
KAMBE Naotomo 千葉大学, 医学研究院, 准教授 (50335254)
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| Project Period (FY) |
2009 – 2011
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| Project Status |
Completed (Fiscal Year 2011)
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| Budget Amount *help |
¥17,810,000 (Direct Cost: ¥13,700,000、Indirect Cost: ¥4,110,000)
Fiscal Year 2011: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2010: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2009: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
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| Keywords | 小児免疫 / アレルギー / 膠原病 / CINCA症候群 / NLRP3 / 体細胞モザイク / iPS細胞 |
|---|
| Research Abstract |
CINCA syndrome is an autoinflammatory disease with fever, urticarial rash, aseptic meningitis, and arthritis caused by NLRP3 gene mutations. It has been known that 40% of the CINCA syndrome patients lack NLRP3 mutations by Sanger sequencing. Recently we have reported"mutation-negative"CINCA syndrome can be caused by NLRP3 somatic mosaicism. In this study, we have collected"mutation-negative"CINCA patients worldwide and demonstrated that 69% of the"mutation-negative"CINCA patients are caused by NLRP3 mosaicism. We also developed an easier and less labor-intensive method to identify NLRP3 mosaicism by next-generation sequencing. Furthermore, we created induced pluripotent stem cells(iPSC) derived from CINCA syndrome and developed methods to differentiate the iPSC to macrophages and chondrocytes, which can be utilized for research on the elucidation of the pathophysiology of the CINCA syndrome.
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