Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.

[junctional epidermolysis bullosa]

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 2 7 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 27 A 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 .