Transcriptomic and proteomic profiling shows dysregulated immune and metabolic pathways in arrhythmogenic cardiomyopathy.

ABSTRACT:

Aims

Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease characterized by fibrofatty myocardial replacement and a predisposition to malignant ventricular arrhythmias. The underlying pathomechanisms remain incompletely understood, and specific disease markers are sparse. This study aimed to characterize the myocardial transcriptome and proteome in ACM patients and assess whether key identified molecules were also detectable in plasma and tissue samples.

Methods and results

Myocardial tissues were obtained from ACM and dilated cardiomyopathy (DCM) patients as well as healthy controls (n = 10/group). Transcriptomic profiling was performed by RNA sequencing and proteomic profiling by label-free liquid chromatography-tandem mass spectrometry. Differential expression

SUBMITTER: Akdis D 

PROVIDER: S-EPMC12719808 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature