Comprehensive analysis of desmosomal protein remodelling identifies desmocollin-2 as potential biomarker for arrhythmogenic cardiomyopathy.

ABSTRACT:

Aims

Arrhythmogenic cardiomyopathy (ACM) is a genetically-determined disease characterized by malignant arrhythmias and sudden cardiac death, particularly in young individuals. Mutations in desmosomal genes are a major cause of ACM, but the role of desmocollin-2 (DSC2) remains understudied.

Methods and results

We conducted a multi-cohort study with 52 ACM patients, 29 with dilated cardiomyopathy (DCM), 17 with hypertrophic cardiomyopathy (HCM), and 45 controls. Immunofluorescence, immunohistochemical staining, and western blot were used to assess DSC2 expression. DSC2 expression was significantly reduced in ACM myocardium compared to controls and other cardiomyopathies (P < 0.0001), consistent across ACM subtypes and validated in an independent cohort. DSC2 down-regulation c

SUBMITTER: Ren J 

PROVIDER: S-EPMC12448895 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature