| Project/Area Number |
15K19670
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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 | Hirosaki University |
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Principal Investigator |
EIJIRO AKASAKA 弘前大学, 医学部附属病院, 助教 (30436034)
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2016: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2015: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
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| Keywords | 栄養障害型表皮水疱症 / VII型コラーゲン / COL7A1 / 表皮水疱症 / 栄養障害型 / 痒疹型 |
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| Outline of Final Research Achievements |
The aim of this study is to elucidate unknown mechanisms underlying the pathogenesis of dystrophic epidermolysis bullosa (DEB). At first, we have analyzed COL7A1 mutation in 155 Japanese DEB families including 60 dominant DEB and 95 recessive DEB. These results provided us some useful evidences for understanding of pathogenesis of DEB, however the genotype-phenotype relationship remains to be unclear. In addition, we analyzed a Japanese DEB pedigree in which the affected family member showed marked clinical heterogeneity. We have reported the pedigree in English literature. Further, we corrected and investigated 20 recessive DEB patients whose COL7A1 mutations were detected only one allele. These patients going to be subjected to next generation sequencing to search candidate genes other than COL7A1 underlying the pathogenesis of DEB.
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