Integrin mutations in blistering skin diseases and related genetically engineered mouse models.

Abstract

As major receptors for cellular adhesion, integrins in the epidermis are critical to maintain skin integrity. Integrins α6β4 and α3β1 are among the most highly and widely expressed integrins in the skin. Perhaps not surprisingly, mutation in subunits associated with these integrins cause variations of a blistering skin disease called junctional epidermolysis bullosa (JEB), which is characterized by blisters that form between the epidermis and dermis of the skin. This review highlights how the differences in structural roles and functions for these epidermal integrins lead to distinct JEB phenotypes resulting from their absence. Additionally, much has been learned by using genetically engineered mouse models, which are featured throughout the review, as they closely resemble the disorders of human patients that harbor analogous mutations.