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

J. Herzog; R. Rid; M. Wagner; H. Hundsberger; A. Eger; J. Bauer; K. Önder

doi:10.1186/s13104-015-1783-7

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

J. Herzog, R. Rid, M. Wagner, H. Hundsberger, A. Eger, J. Bauer, K. Önder

Publikation: Beitrag in Fachzeitschrift › Artikel › Begutachtung

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.

Originalsprache	Englisch
Aufsatznummer	785
Seiten (von - bis)	785
Fachzeitschrift	BMC Research Notes
Jahrgang	8
Ausgabenummer	1
DOIs	https://doi.org/10.1186/s13104-015-1783-7
Publikationsstatus	Veröffentlicht - 15 Dez. 2015

IMC Forschungsschwerpunkte

Medical biotechnology

ÖFOS 2012 - Österreichischen Systematik der Wissenschaftszweige

304005 Medizinische Biotechnologie

UN SDGs

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10.1186/s13104-015-1783-7

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Herzog, J., Rid, R., Wagner, M., Hundsberger, H., Eger, A., Bauer, J., & Önder, K. (2015). Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways. BMC Research Notes, 8(1), 785. Artikel 785. https://doi.org/10.1186/s13104-015-1783-7

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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",

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.",

keywords = "transcriptome, cell line, DNA microarray, drug effects, epidermolysis bullosa simplex, gene expression profiling, gene ontology, genetic predisposition, genetics, human, keratinocyte, metabolism, molecularly targeted therapy, mutation, pathology, procedures, reverse transcription polymerase chain reaction, signal transduction, Western blotting, Blotting, Western, Cell Line, Epidermolysis Bullosa Simplex, Gene Expression Profiling, Gene Ontology, Genetic Predisposition to Disease, Humans, Keratinocytes, Molecular Targeted Therapy, Mutation, Oligonucleotide Array Sequence Analysis, Reverse Transcriptase Polymerase Chain Reaction, Signal Transduction, Transcriptome, Gene expression profiling, EBS-DM, Dowling-Meara, Epidermolysis bullosa simplex, Genetic Predisposition to Disease/genetics, Keratinocytes/drug effects, Epidermolysis Bullosa Simplex/drug therapy, Molecular Targeted Therapy/methods, Gene Expression Profiling/methods, Transcriptome/genetics, Signal Transduction/drug effects, Blotting, Western",

author = "J. Herzog and R. Rid and M. Wagner and H. Hundsberger and A. Eger and J. Bauer and K. {\"O}nder",

note = "Funding Information: This work was supported by the Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Austria and Procomcure Biotech GmbH, Austria. Publisher Copyright: {\textcopyright} 2015 Herzog et al.",

year = "2015",

month = dec,

day = "15",

doi = "10.1186/s13104-015-1783-7",

language = "English",

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Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways. / Herzog, J.; Rid, R.; Wagner, M. et al.
in: BMC Research Notes, Jahrgang 8, Nr. 1, 785, 15.12.2015, S. 785.

Publikation: Beitrag in Fachzeitschrift › Artikel › Begutachtung

TY - JOUR

T1 - Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

AU - Herzog, J.

AU - Rid, R.

AU - Wagner, M.

AU - Hundsberger, H.

AU - Eger, A.

AU - Bauer, J.

AU - Önder, K.

N1 - Funding Information: This work was supported by the Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Austria and Procomcure Biotech GmbH, Austria. Publisher Copyright: © 2015 Herzog et al.

PY - 2015/12/15

Y1 - 2015/12/15

N2 - 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.

AB - 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.

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KW - Dowling-Meara

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KW - Gene Expression Profiling/methods

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