Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy
Claudia Sacchetto,
Zenab Mohseni,
Robin M. W. Colpaert,
Libero Vitiello,
Marzia De Bortoli,
Indira G. C. Vonhögen,
Ke Xiao,
Giulia Poloni,
Alessandra Lorenzon,
Chiara Romualdi,
Riccardo Bariani,
Elisa Mazzotti,
Luciano Daliento,
Barbara Bauce,
Domenico Corrado,
Thomas Thum,
Alessandra Rampazzo,
Leon J. de Windt,
Martina Calore
Affiliations
Claudia Sacchetto
Department of Molecular Genetics, Faculty of Science and Engineering, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER Maastricht, The Netherlands
Zenab Mohseni
Department of Molecular Genetics, Faculty of Science and Engineering, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER Maastricht, The Netherlands
Robin M. W. Colpaert
Department of Molecular Genetics, Faculty of Science and Engineering, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER Maastricht, The Netherlands
Libero Vitiello
Department of Biology, Padova University, 35121 Padova, Italy
Marzia De Bortoli
Department of Biology, Padova University, 35121 Padova, Italy
Indira G. C. Vonhögen
Department of Molecular Genetics, Faculty of Science and Engineering, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER Maastricht, The Netherlands
Ke Xiao
Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, D-30625 Hannover, Germany
Giulia Poloni
Department of Biology, Padova University, 35121 Padova, Italy
Alessandra Lorenzon
Department of Biology, Padova University, 35121 Padova, Italy
Chiara Romualdi
Department of Biology, Padova University, 35121 Padova, Italy
Riccardo Bariani
Department of Cardiac, Thoracic, and Vascular Sciences, Padova University, 35121 Padova, Italy
Elisa Mazzotti
Department of Cardiac, Thoracic, and Vascular Sciences, Padova University, 35121 Padova, Italy
Luciano Daliento
Department of Cardiac, Thoracic, and Vascular Sciences, Padova University, 35121 Padova, Italy
Barbara Bauce
Department of Cardiac, Thoracic, and Vascular Sciences, Padova University, 35121 Padova, Italy
Domenico Corrado
Department of Cardiac, Thoracic, and Vascular Sciences, Padova University, 35121 Padova, Italy
Thomas Thum
Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, D-30625 Hannover, Germany
Alessandra Rampazzo
Department of Biology, Padova University, 35121 Padova, Italy
Leon J. de Windt
Department of Molecular Genetics, Faculty of Science and Engineering, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER Maastricht, The Netherlands
Martina Calore
Department of Molecular Genetics, Faculty of Science and Engineering, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER Maastricht, The Netherlands
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.