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)
|