TITLE

Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

AUTHOR(S)
Herzog, Julia; Rid, Raphaela; Wagner, Martin; Hundsberger, Harald; Eger, Andreas; Bauer, Johann; Önder, Kamil
PUB. DATE
December 2015
SOURCE
BMC Research Notes;12/15/2015, Vol. 8, p1
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Background: To be able to develop effective therapeutics for epidermolysis bullosa simplex (EBS), it is necessary to elucidate the molecular pathomechanisms that give rise to the disease's characteristic severe skin-blistering phenotype. Results: Starting with a whole-transcriptome microarray analysis of an EBS Dowling-Meara model cell line (KEB7), we identified 207 genes showing differential expression relative to control keratinocytes. A complementary qRT-PCR study of 156 candidates confirmed 76.58 % of the selected genes to be significantly up-regulated or down-regulated (p-value <0.05) within biological replicates. Our hit list contains previously identified genes involved in epithelial cell proliferation, cell-substrate adhesion, and responses to diverse biological stimuli. In addition, we identified novel candidate genes and potential affected pathways not previously considered as relevant to EBS pathology. Conclusions: Our results broaden our understanding of the molecular processes dysregulated in EBS.
ACCESSION #
111803026

 

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