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

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.

• Authors: Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder
• Journal: BMC research notes (BMC Res Notes) Vol. 8 Pg. 785 (Dec 15 2015) ISSN: 1756-0500 [Electronic] England
• PMID: 26666517 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Blotting, Western
• Cell Line
• Epidermolysis Bullosa Simplex (drug therapy, genetics, pathology)
• Gene Expression Profiling (methods)
• Gene Ontology
• Genetic Predisposition to Disease (genetics)
• Humans
• Keratinocytes (drug effects, metabolism)
• Molecular Targeted Therapy (methods)
• Mutation
• Oligonucleotide Array Sequence Analysis
• Reverse Transcriptase Polymerase Chain Reaction
• Signal Transduction (drug effects, genetics)
• Transcriptome (genetics)