2019 Fiscal Year Final Research Report
Pathomechanisms underlying allergic skin diseases
| Project/Area Number |
18K19531
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| Research Category |
Grant-in-Aid for Challenging Research (Exploratory)
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| Allocation Type | Multi-year Fund |
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| Review Section |
Medium-sized Section 53:Organ-based internal medicine and related fields
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| Research Institution | Hokkaido University |
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Principal Investigator |
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| Project Period (FY) |
2018-06-29 – 2020-03-31
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| Keywords | アトピー性皮膚炎 |
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| Outline of Final Research Achievements |
Loss-of-function mutations in the filaggrin gene (FLG) are a well known predisposing factor to atopic dermatitis. However, the precise mechanisms how the FLG mutations lead to reduced expression of FLG in the epidermis remain unknown, because all previously reported FLG mutations are located in the last exon of the gene and therefore mutant FLG mRNA is presumably degraded by nonsense-mediated mRNA decay (NMD). In this study, we demonstrated that mutant FLG mRNA may be degraded by NMD. Further studies are warranted to confirm this preliminary finding.
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| Free Research Field |
皮膚科学
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| Academic Significance and Societal Importance of the Research Achievements |
フィラグリン遺伝子変異は、日本人や英国人の約10％が保有していることが知られており、皮膚バリアの破綻がアトピー性皮膚炎などのアレルギー疾患の重要な発症因子であることが知られている。そのため、変異によるフィラグリン発現低下機構の詳細を明らかにすることは、アレルギー疾患の治療のみならず予防につながる可能性を秘めており、罹患患者数が減少すれば社会的観点のみならず医療経済の観点からも極めて意義深いと思われる。
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