Arrhythmogenic cardiomyopathy (ACM) is a genetic autosomal disease characterized by abnormal cell-cell adhesion, cardiomyocyte death, progressive fibro-adipose replacement of the myocardium, arrhythmias and sudden death. Several different cell types contribute to the pathogenesis of ACM, including, as recently described, cardiac stromal cells (CStCs).
While extensive characterizations have been performed on the genetic basis of this disease, only few studies have been conducted investigating differences at transcriptional levels. This study addresses, for the first time, the characterization of the ACM-specific coding and non-coding transcriptome in CStCs. To this end the Authors compared expression of genes and miRNAs in cells derived from diagnostic biopsies of ACM patients or controls. In order to reveal biological pathways potentially involved in ACM, the Authors performed category enrichment and network analyses on the differentially expressed genes and validated target genes of the deregulated miRNAs.
The study found evidence for a potential prominent role of miRNAs in ACM pathogenesis or phenotype maintenance. Taken together, the comprehensive data set and the results presented here might serve as a resource for future studies elucidating the role of the identified genes, miRNAs or pathways in ACM.