Dysfunctional desmosomes cause arrhythmogenic cardiomyopathy and pemphigus, and contribute to inflammatory bowel diseases, highlighting new pathogenesis and treatment concepts.
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Desmosomes are adhesive cell contacts abundant in tissues exposed to mechanical strain, such as the stratified and simple epithelia of the epidermis and mucous membranes, as well as the myocardium. Besides their role in mechanical cell cohesion, desmosomes also modulate pathways important for tissue differentiation, wound healing and immune responses. Dysfunctional desmosomes, resulting from pathogenic variants in genes encoding desmosomal components, autoantibodies targeting desmosomal adhesion molecules or inflammation, cause the life-threatening diseases arrhythmogenic cardiomyopathy and pemphigus and contribute to the pathogenesis of inflammatory bowel diseases. The Alpine Desmosome Disease Meeting 2024 (ADDM 2024), held in Grainau, Germany in October 2024, connected international researchers from basic sciences with clinical experts from dermatology, cardiology, gastroenterology and surgery. The participants discussed recent advances, identified hot topics in desmosome biology and disease and provided new concepts for pathogenesis and treatment approaches.
Waschke et al. (Wed,) reported a other. Dysfunctional desmosomes cause arrhythmogenic cardiomyopathy and pemphigus, and contribute to inflammatory bowel diseases, highlighting new pathogenesis and treatment concepts.