Key result
In vitro cellular models elucidate arrhythmogenic cardiomyopathy pathogenesis, highlighting desmosomal dysfunction and signaling pathways.
This review highlights the vital role of diverse in vitro cell platforms in elucidating the molecular mechanisms of arrhythmogenic cardiomyopathy and their potential for screening new therapeutic agents.
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Supports expanded in vitro screening for arrhythmogenic cardiomyopathy therapies; leaves open clinical translation pending prospective validation.
Arrhythmogenic cardiomyopathy is a rare genetic disease that is mostly inherited as an autosomal dominant trait. It is associated predominantly with mutations in desmosomal genes and is characterized by the replacement of the ventricular myocardium with fibrous fatty deposits, arrhythmias and a high risk of sudden death. In vitro studies have contributed to our understanding of the pathogenic mechanisms underlying this disease, including its genetic determinants, as well as its cellular, signaling and molecular defects. Here, we review what is currently known about the pathogenesis of arrhythmogenic cardiomyopathy and focus on the in vitro models that have advanced our understanding of the disease. Finally, we assess the potential of established and innovative cell platforms for elucidating unknown aspects of this disease, and for screening new potential therapeutic agents. This appraisal of in vitro models of arrhythmogenic cardiomyopathy highlights the discoveries made about this disease and the uses of these models for future basic and therapeutic research.
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Sommariva et al. (2017) conducted a review in Arrhythmogenic cardiomyopathy. In vitro cellular models was evaluated.
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