(Daniel Beriault completed his M.Sc. in 2009 and is now a PhD student at McMaster University)

Alaska Cruise & Calgary 050

Previous Degree(s):

B.Sc. Hons. Biochemistry Co-op, University of Guelph (2006)

Current studies:

PhD Candidate, McMaster University

Research project:

Epidermolysis bullosa simplex is a skin fragility disorder resulting in the separation of the epidermis from the dermis layer with the appearance of fluid-filled blisters upon even mild mechanical trauma. More specifically, the separation occurs within the keratinocytes of the epidermal stratum basale layer and can be attributed to dominant genetic mutations in the keratin 5 and 14 intermediate filament (IF) proteins. The symptoms include generalized blistering, palmoplantar keratoderma, nail dystrophy, and oral ulcerations. The clinical severity of the disorder varies from mild to fatal and can be largely correlated to the position of the mutation in the keratin 5 or 14 genes. Studying the wild type and mutant IF proteins found in EBS cells will offer insight into this disorder and advance the biomechanical knowledge of the IF cytoskeleton. Recent studies into the IF have demonstrated that it differs complexly from its cytoskeleton neighbours: actin and microtubules. IF proteins have extraordinary extensibility, and elastic properties that allow it to be stretched to 35% its length without damage, and 250% before failing. In this study, we will investigate whether the recently elucidated tensile properties of IFs in vitro are relevant to the pathophysiology of EBS skin fragility in vivo.