Expression signature of epidermolysis bullosa simplex.

[epidermolysis bullosa simplex]

Epidermolysis bullosa simplex (EBS ) is a skin disorder resulting from a weakened cytoskeleton of the proliferative compartment of the epidermis , leading to cell fragility and blistering . Although many mutations have been identified in intermediate filament keratins KRT 5 and KRT 14 , detailed pathogenic mechanisms and the way these mutations affect cell metabolism are unclear . Therefore , we performed genomic and transcriptomic study in six Canadian EBS patients and six healthy subjects . We first characterized these patients at the genetic level and identified six pathogenic mutations of which two were novel . Then , we performed an expression microarray analysis of the EBS epidermis tissue to identify potential regulatory pathways altered in this disease . Expression profiling comparisons show that 28 genes are differentially expressed in EBS patients compared to control subjects and 41 genes in severe phenotype patients (EBS -DM ) compared to their paired controls . Nine genes involved in fatty acid metabolism and two genes in epidermal keratinization are common altered expressed genes (up regulated ) between the two subgroups . These two biological pathways contribute both to the formation of the cell envelope barrier and seem to be defective in the severe EBS phenotype . This study identifies , for the first time , the fatty acid metabolism disruption in EBS .

Diseases
Validation

Diseases presenting "leading to cell fragility and blistering" symptom

epidermolysis bullosa simplex

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