Classifying of Arrhythmogenic Cardiomyopathy-Linked Desmoplakin Variants through Molecular Mechanisms of Pathogenicity

Arrhythmogenic Cardiomyopathy (ACM) is a disease that affects 1 in 2000 Americans yearly and segregates with sudden cardiac death (SCD). Up to 60% of ACM cases are associated with variants in desmosomal genes, however the molecular mechanisms associated with ACM remain unclear. Of those 60% of cases, up to 40% are linked to the desmosomal protein desmoplakin (DSP). DSP is a structural protein responsible for linking intermediate filaments to the...