The Role of MicroRNAs in Arrhythmogenic Cardiomyopathy: Biomarkers or Innocent Bystanders of Disease Progression?

Abstract

Arrhythmogenic cardiomyopathy (AC) is an inherited cardiac disease characterized by a progressive fibro-fatty replacement of the working myocardium and by life-threatening arrhythmias and risk of sudden cardiac death. Pathogenic variants are identified in nearly 50% of affected patients mostly in genes encoding for desmosomal proteins. AC incomplete penetrance and phenotypic variability advocate that other factors than genetics may modulate the disease, such as microRNAs (miRNAs). MiRNAs are small noncoding RNAs with a primary role in gene expression regulation and network of cellular processes. The implication of miRNAs in AC pathogenesis and their role as biomarkers for early disease detection or differential diagnosis has been the objective of multiple studies employing diverse designs and methodologies to detect miRNAs and measure their expression levels. Here we summarize experiments, evidence, and flaws of the different studies and hitherto knowledge of the implication of miRNAs in AC pathogenesis and diagnosis.

Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy

“…While the progression of an ARVC to a BIV variant is already known to be common in ACM natural history, the coexistence of ALVC and ARVC forms even within variant carriers belonging to the same family raises the issue of modifying factors and genes that are not completely known up to now (Figures 2 and 3). [13][14][15][16][17][18]…”

Non-Coding RNAs and Gut Microbiota in the Pathogenesis of Cardiac Arrhythmias: The Latest Update

“…In particular, myocardial expression of IL-17 and/or TNF is substantially enhanced in all cases of arrhythmogenic cardiomyopathy [ 38 ]. In a large cohort of samples, the miR-122-5p , miR-133b , miR-133a-3p , miR-142-3p , miR-183-5p, and miR-182-5p could possess high diagnostic potential in arrhythmogenic cardiomyopathy patients [ 39 , 40 ]. The implication of miRNAs in the pathogenesis of arrhythmogenic cardiomyopathy has been the objective of multiple studies.…”

Non Coding RNAs as Regulators of Wnt/β-Catenin and Hippo Pathways in Arrhythmogenic Cardiomyopathy

“…Secondly, Bueno Marinas studied nine ACM cases and four controls (RV tissue and plasma) by means of an 84-miRNA cardiac-related array. After validation in a larger cohort of samples, they concluded that a group of six miRNAs (miR-122-5p, miR-133a-3p, miR-133b, miR-142-3p, miR-182-5p, and miR-183-5p) presented high discriminatory diagnostic power in ACM patients [ 60 ]. Thirdly, Sacchetto et al screened 754 miRNAs in 21 pooled plasmas from ACM patients and 20 controls.…”