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

An effective epidermal barrier requires intercellular junctions including desmosomes and gap junctions (GJ). While desmosomes play a role in cell-cell adhesion, GJs facilitate small molecule transfer across cell membranes. GJs are composed of connexins (Cx), with Cx43 (encoded by GJA1) most abundantly expressed in skin. Severe dermatitis, multiple Allergies and Metabolic wasting (SAM) syndrome is a condition caused by biallelic mutations in DSG1. SAM syndrome can manifest with skin lesions reminiscent of Erythrokeratodermia Variabilis, a group of disorders associated with mutations in Cx-encoding genes which result in Cx43 dysregulation.

Source: Journal of Investigative Dermatology - April 19, 2019 Category: Dermatology Authors: E. Cohen Barak, L. Godsel, J. Koetsier, D. Kushnir, H. Hammad, N. Farran, O. Sarig, J. Johnson, M. Ziv, S.S. Shalev, E. Sprecher, K. Green Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research