The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome

An effective epidermal barrier requires structural and functional integration of adherens junctions, tight junctions, gap junctions (GJ), and desmosomes. Desmosomes govern epidermal integrity while GJs facilitate small molecule transfer across cell membranes. Some patients with Severe dermatitis, multiple Allergies, and Metabolic wasting (SAM) syndrome, caused by biallelic Desmoglein 1 (DSG1) mutations, exhibit skin lesions reminiscent of Erythrokeratodermia Variabilis, caused by mutations in Connexin genes (Cxs).

Source: Journal of Investigative Dermatology - August 25, 2019 Category: Dermatology Authors: Eran Cohen Barak, Lisa M. Godsel, Jennifer L. Koetsier, Marihan Hegazy, Daniella Kushnir-Grinbaum, Helwe Hammad, Nada Danial- Farran, Robert Harmon, Morad Khayat, Ron Bochner, Alon Peled, Mati Rozenblat, Judit Krausz, Ofer Sarig, Jodi L. Johnson, Michael Tags: Original Article Source Type: research