1994 Fiscal Year Final Research Report Summary
A genetical study on epiderumolysis bullosa
| Project/Area Number |
04670631
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | HIROSAKI UNIVERSITY |
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Principal Investigator |
NOMURA Kazuo Hirosaki. Univ, School of Med, Dermatology, associate professor, 医学部, 助教授 (80142868)
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| Co-Investigator(Kenkyū-buntansha) |
SAWAMURA Daisuke Hirosaki Univ, School of Med, Dermatology, asssistant professor, 医学部附属病院, 講師 (60196334)
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| Project Period (FY) |
1992 – 1994
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| Keywords | epidermolysis bullosa / DNA linkage analysis / type VII collagen / keratin / gene mutation / collagenase / stromelysin |
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| Research Abstract |
1.Type VII collagen DNA linkage study was performed in a large family with dominant dystrophic epidermolysis bullosa (EB). The maximum lod score was 2.10 with no recombination. In Dowling-Meara type of EB simplex, a point mutation which resulted in Arg*Cys was identified in the gene coding highly-conserved area of the keratin K14.
2.In order to study the pathogenesis of junctional EB,expression of genes encoding basement membrane zone macumolecukes (type IV collagen, laminin, 230kDa bullous pemphigoid antigen) was examined in keratinocytes and fibroblasts. The results revealed that both cells have mRNA of these macromolecules, indicating that these cells can be utillized for the analysis of DNA mutations in EB.
3.Expression of collagenase and stromelysin was examined in dominant and recessive dystrophic EB fibroblasts. In recessive dystrophic EB,collagenase and stromelysin expression was increased coordinately or uncoordinately at both protein and gene expression level. The results provide evidence that the increased metalloproteinase expression may play a certain role in the formation of blisters.
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Research Products
(12 results)
