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

Exp Dermatol. 2012 Jul;21(7):526-30. doi: 10.1111/j.1600-0625.2012.01519.x.


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 (COL16A1), G0/G1 switch 2 (G0S2), fibronectin (FN1), ribosomal protein S27A (RPS27A) and low density lipoprotein receptor (LDLR) were shown to exhibit corresponding changes in gene expression in all three EB subtypes. While COL16A1, G0S2 and FN1 are up-regulated, LDLR and RPS27A 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins / genetics
  • Cells, Cultured
  • Collagen / genetics
  • Down-Regulation
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa, Junctional / genetics*
  • Fibronectins / genetics
  • Gene Expression*
  • Humans
  • Keratinocytes
  • Muscular Dystrophies / genetics
  • Mutation
  • Oligonucleotide Array Sequence Analysis
  • RNA, Messenger / metabolism
  • Real-Time Polymerase Chain Reaction
  • Receptors, LDL / genetics
  • Ribosomal Proteins / genetics
  • Up-Regulation


  • COL16A1 protein, human
  • Cell Cycle Proteins
  • FN1 protein, human
  • Fibronectins
  • G0S2 protein, human
  • RNA, Messenger
  • Receptors, LDL
  • Ribosomal Proteins
  • ribosomal protein S27a
  • Collagen