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Epidermolysis bullosa – a group of skin diseases with different causes but commonalities in gene expression
Author(s) -
Knaup Julia,
Verwanger Thomas,
Gruber Christina,
Ziegler Verena,
Bauer Johann W.,
Krammer Barbara
Publication year - 2012
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.2012.01519.x
Subject(s) - fibronectin , epidermolysis bullosa , gene , phenotype , messenger rna , gene expression , apoptosis , biology , receptor , microbiology and biotechnology , cancer research , genetics , extracellular matrix
Epidermolysis bullosa (EB) is a group of hereditary skin disorders. Although each subtype is caused by mutations in genes encoding differentially located components of the skin, the resulting phenotype is similar. In this study, we investigated similarities in the gene expression profiles of each subtype on mRNA level. Type XVI collagen ( COL 16 A 1), G 0/ G 1 switch 2 ( G 0 S 2), fibronectin ( FN 1), ribosomal protein S 27 A ( RPS 27 A ) and low density lipoprotein receptor ( LDLR ) were shown to exhibit corresponding changes in gene expression in all three EB subtypes. While COL 16 A 1, G 0 S 2 and FN 1 are up‐regulated, LDLR and RPS 27A mRNA levels are decreased. These data indicate that EB cells seem to take measures increasing their mechanical stability. Apoptosis is likely to be exacerbated, and migratory potential appears to be elevated. Protein degradation is hampered, and the release of fatty acids and glycerol is restricted, probably to save energy. These commonalities might benefit existing EB treatment strategies or could help to reveal new starting points for the treatment of EB in the future.