Is there any responsible genetic factor other than mutation of COL7A1 underlying pathogenesis of dystrophic epidermolysis bullosa?

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19670
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hirosaki University
• Principal Investigator: EIJIRO AKASAKA 弘前大学, 医学部附属病院, 助教 (30436034)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 栄養障害型表皮水疱症 / VII型コラーゲン / COL7A1

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.

Free Research Field

皮膚科学，水疱症，遺伝性角化症，遺伝性皮膚疾患