| Epidermolysis bullosa simplex (EBS) is an inheritable skin bustering disorder of varying severity that presents in early human infancy. It is characterized by the separation and cytolysis of basal epidermal keratinocytes splitting from the dermis layer upon mild physical trauma. EBS is attributed to genetic point mutations in keratin 5 or 14 intermediate filament proteins. Currently, it is unknown how these keratin mutations cause cell fragility in EBS. In this study, I investigated whether the extraordinary extensibility and elasticity of Wild-type intermediate filaments are relevant to the pathophysiology of skin fragility in EBS Dowling-Meara cell cultures. I found that EBS-DM cells were able to survive extreme cell deformations similar to the wild-type control, and their mutant keratin filaments appeared to retain all wild-type properties in regards to extensibility, elasticity and bending behaviour. The data suggest that EBS cell fragility is not related to the physical properties of the keratin filament itself, but instead, is possibly due to the reduction in the density of the keratin network via aggregate formations. |
