Generation of a novel mouse model for SAM syndrome

SAM (Severe dermatitis, multiple Allergies, and Metabolic wasting) syndrome is a severe inflammatory type of peeling skin disease associated with allergies, caused by homozygous mutations in the desmoglein 1 (DSG1) gene. There are currently no available model to better understand this disorder and no cure for this syndrome or for similar disorders involving severe skin barrier defects. This Telethon exploratory project has allowed us to generate crucial human and mouse genetic models to study SAM syndrome, a skin disorder that has been so far completely neglected. Our studies are ongoing to determine the molecular consequences of losing DSG1 function in skin and to determine the systemic consequences. SAM syndrome patients suffer of multiple allergies and a metabolic wasting syndrome. The SAM syndrome mouse model that has been generated will be crucial to test our hypothesis that skin inflammation and epidermal barrier malfunction in SAM syndrome may be causative of the systemic symptoms observed in patients. In other diseases, skin barrier alterations lead to excessive production of inflammatory molecules that are released in the blood stream causing systemic problems. Identification of these molecules may lead to the cure of the systemic symptoms observed in SAM syndrome.