| Project/Area Number |
15K09780
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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 |
Dermatology
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| Research Institution | Wakayama Medical University |
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Principal Investigator |
Kanazawa Nobuo 和歌山県立医科大学, 医学部, 准教授 (90343227)
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| Co-Investigator(Kenkyū-buntansha) |
稲葉 豊 和歌山県立医科大学, 医学部, 助教 (00647571)
国本 佳代 和歌山県立医科大学, 医学部, 助教 (10438278)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | プロテアソーム / 自己炎症性疾患 / インターフェロン / 遺伝子 / 蛋白質 / 免疫学 |
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| Outline of Final Research Achievements |
Cases who were clinically diagnosed as Nakajo-Nishimura syndrome but not associated with a PSMB8 mutation were collected from all over Japan and provided for analysis of a panel of proteasome-associated genes as well as the genes associated with known interferonopathy, inflammasome and autophagy, and/or for the whole exome sequencing. As a result, several cases with Aicardi-Goutieres syndrome harboring a TREX1 mutation were identified, as well as a case with a novel proteasome-associated autoinflammatory syndrome with a PSMB9 mutation and a case with a novel interferonopathy harboring a mutation in the gene whose role as a disease cause had not been reported. Analysis of the proteasome activities, formation of the proteasome complex and accumulation of ubiquitin in these cases suggested the presence of a pathomechanism distinct from that of Nakajo-Nishimura syndrome.
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