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. 2021 Sep 28;10(10):2578.
doi: 10.3390/cells10102578.

Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy

Claudia Sacchetto  1   2 , Zenab Mohseni  1 , Robin M W Colpaert  1 , Libero Vitiello  2 , Marzia De Bortoli  2   3 , Indira G C Vonhögen  1 , Ke Xiao  4   5 , Giulia Poloni  2 , Alessandra Lorenzon  2 , Chiara Romualdi  2 , Riccardo Bariani  6 , Elisa Mazzotti  6 , Luciano Daliento  6 , Barbara Bauce  6 , Domenico Corrado  6 , Thomas Thum  4 , Alessandra Rampazzo  2   7 , Leon J de Windt  1 , Martina Calore  1   2
Affiliations

Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy

Claudia Sacchetto et al. Cells. .

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiac disease characterized by progressive myocardial fibro-fatty replacement, arrhythmias and risk of sudden death. Its diagnosis is challenging and often it is achieved after disease onset or postmortem. In this study, we sought to identify circulating microRNAs (miRNAs) differentially expressed in ARVC patients compared to healthy controls. In the pilot study, we screened the expression of 754 miRNAs from 21 ARVC patients and 20 healthy controls. After filtering the miRNAs considering a log fold-change cut-off of ±1, p-value < 0.05, we selected five candidate miRNAs for a subsequent validation study in which we used TaqMan-based real-time PCR to analyse samples from 37 ARVC patients and 30 healthy controls. We found miR-185-5p significantly upregulated in ARVC patients. Receiver operating characteristic analysis indicated an area under the curve of 0.854, corroborating the link of this miRNA and ARVC pathophysiology.

Keywords: MicroRNAs; arrhythmogenic right ventricular cardiomyopathy; biomarkers; circulating microRNAs; genetics; heart failure.

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Conflict of interest statement

T.T. has filed and licensed patients in the field of noncoding RNAs. T.T. is founder and shareholder of Cardior Pharmaceuticals GmbH. L.J.d.W. is co-founder and shareholder of Mirabilis Therapeutics BV. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Workflow of the study demonstrating the screening process used to determine the miRNAs altered in ARVC patients. ARVC, Arrhythmogenic Right Ventricular Cardiomyopathy; HC, healthy controls; miRNAs, microRNAs; qPCR, quantitative polymerase chain reaction.
Figure 2
Figure 2
Circulating miRNAs differentially expressed in ARVC patients. (A) Volcano plot showing the differential expression of the circulating miRNAs in ARVC patients. Dots above the p-value = 0.05 threshold line (red solid line) indicate statistically significant dysregulated miRNAs. Red dashed lines indicate the LogFC threshold (±1). (B) Heatmap reporting a visual representation of the five candidate miRNAs differentially expressed in ARVC pools compared with HC groups.
Figure 3
Figure 3
Validation of miRNA dysregulation in ARVC patients and predictive role of miR-185-5p. (A) Scatterplot showing miR-185-5p upregulation in ARVC patients (n = 37) compared with HC (n = 30). HC = healthy controls, ARVC = arrhythmogenic cardiomyopathy. (B) Receiver operating characteristic (ROC) analysis of miR-185-5p: cut-off value 1.57 (fold change; AUC: 0.854). AUC = area under the curve.
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