2014 Fiscal Year Final Research Report
Elucidation of the mechanism underlying familial hidradenitis suppurativa and development of novel therapeutic strategies
| Project/Area Number |
25860925
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Dermatology
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| Research Institution | Hokkaido University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2015-03-31
|
| Keywords | 慢性膿皮症 / ガンマセクレターゼ |
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| Outline of Final Research Achievements |
Hidradenitis suppurativa is a chronic inflammatory skin disease characterized by repeated bacterial infections on the scalp, axillae, buttocks and groins. Recently, loss-of-function mutations in the genes encoding gamma-secretase have been identified as a cause of the disease. However, most of the patients do not carry any pathogenic mutations in the genes. In this study, we identified a novel nonsense mutation in the NCSTN gene in a family with hidradenitis suppurativa. Moreover, we showed that smoking could predispose to the disease.
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| Free Research Field |
皮膚科学
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