Whole-transcriptome Gene Expression Profiling in an Epidermolysis Bullosa Simplex Dowling-Meara Model Keratinocyte Cell Line Uncovered Novel, Potential Therapeutic Targets and Affected Pathways

Overview

Journal BMC Res Notes

Publisher Biomed Central

Specialties Biology
General Medicine

Date 2015 Dec 16

PMID 26666517

Citations 2

Authors

Julia Herzog

Raphaela Rid

Martin Wagner

Harald Hundsberger

Andreas Eger

Johann Bauer

Kamil Onder

Affiliations

Soon will be listed here.

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.

Citing Articles

Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.

Bchetnia M, Powell J, McCuaig C, Boucher-Lafleur A, Morin C, Dupere A Int J Mol Sci. 2024; 25(17).

PMID: 39273442 PMC: 11394917. DOI: 10.3390/ijms25179495.

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Evtushenko N, Beilin A, Kosykh A, Vorotelyak E, Gurskaya N Int J Mol Sci. 2021; 22(22).

PMID: 34830328 PMC: 8624175. DOI: 10.3390/ijms222212446.

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