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A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort

Arrhythmogenic Cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease. Half of AC patients harbour private desmosomal gene variants. Although microRNAs (miRNAs) have emerged as key regulator molecules in cardiovascular diseases and their involvement, correlated to pheno...

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Autores principales: Bueno Marinas, Maria, Celeghin, Rudy, Cason, Marco, Bariani, Riccardo, Frigo, Anna Chiara, Jager, Joanna, Syrris, Petros, Elliott, Perry M., Bauce, Barbara, Thiene, Gaetano, Corrado, Domenico, Basso, Cristina, Pilichou, Kalliopi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073183/
https://www.ncbi.nlm.nih.gov/pubmed/32102357
http://dx.doi.org/10.3390/ijms21041536
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author Bueno Marinas, Maria
Celeghin, Rudy
Cason, Marco
Bariani, Riccardo
Frigo, Anna Chiara
Jager, Joanna
Syrris, Petros
Elliott, Perry M.
Bauce, Barbara
Thiene, Gaetano
Corrado, Domenico
Basso, Cristina
Pilichou, Kalliopi
author_facet Bueno Marinas, Maria
Celeghin, Rudy
Cason, Marco
Bariani, Riccardo
Frigo, Anna Chiara
Jager, Joanna
Syrris, Petros
Elliott, Perry M.
Bauce, Barbara
Thiene, Gaetano
Corrado, Domenico
Basso, Cristina
Pilichou, Kalliopi
author_sort Bueno Marinas, Maria
collection PubMed
description Arrhythmogenic Cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease. Half of AC patients harbour private desmosomal gene variants. Although microRNAs (miRNAs) have emerged as key regulator molecules in cardiovascular diseases and their involvement, correlated to phenotypic variability or to non-invasive biomarkers, has been advanced also in AC, no data are available in larger disease cohorts. Here, we propose the largest AC cohort unbiased by technical and biological factors. MiRNA profiling on nine right ventricular tissue, nine blood samples of AC patients, and four controls highlighted 10 differentially expressed miRNAs in common. Six of these were validated in a 90-AC patient cohort independent from genetic status: miR-122-5p, miR-133a-3p, miR-133b, miR-142-3p, miR-182-5p, and miR-183-5p. This six-miRNA set showed high discriminatory diagnostic power in AC patients when compared to controls (AUC-0.995), non-affected family members of AC probands carrying a desmosomal pathogenic variant (AUC-0.825), and other cardiomyopathy groups (Hypertrophic Cardiomyopathy: AUC-0.804, Dilated Cardiomyopathy: AUC-0.917, Brugada Syndrome: AUC-0.981, myocarditis: AUC-0.978). AC-related signalling pathways were targeted by this set of miRNAs. A unique set of six-miRNAs was found both in heart-tissue and blood samples of AC probands, supporting its involvement in disease pathogenesis and its possible role as a non-invasive AC diagnostic biomarker.
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spelling pubmed-70731832020-03-19 A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort Bueno Marinas, Maria Celeghin, Rudy Cason, Marco Bariani, Riccardo Frigo, Anna Chiara Jager, Joanna Syrris, Petros Elliott, Perry M. Bauce, Barbara Thiene, Gaetano Corrado, Domenico Basso, Cristina Pilichou, Kalliopi Int J Mol Sci Article Arrhythmogenic Cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease. Half of AC patients harbour private desmosomal gene variants. Although microRNAs (miRNAs) have emerged as key regulator molecules in cardiovascular diseases and their involvement, correlated to phenotypic variability or to non-invasive biomarkers, has been advanced also in AC, no data are available in larger disease cohorts. Here, we propose the largest AC cohort unbiased by technical and biological factors. MiRNA profiling on nine right ventricular tissue, nine blood samples of AC patients, and four controls highlighted 10 differentially expressed miRNAs in common. Six of these were validated in a 90-AC patient cohort independent from genetic status: miR-122-5p, miR-133a-3p, miR-133b, miR-142-3p, miR-182-5p, and miR-183-5p. This six-miRNA set showed high discriminatory diagnostic power in AC patients when compared to controls (AUC-0.995), non-affected family members of AC probands carrying a desmosomal pathogenic variant (AUC-0.825), and other cardiomyopathy groups (Hypertrophic Cardiomyopathy: AUC-0.804, Dilated Cardiomyopathy: AUC-0.917, Brugada Syndrome: AUC-0.981, myocarditis: AUC-0.978). AC-related signalling pathways were targeted by this set of miRNAs. A unique set of six-miRNAs was found both in heart-tissue and blood samples of AC probands, supporting its involvement in disease pathogenesis and its possible role as a non-invasive AC diagnostic biomarker. MDPI 2020-02-24 /pmc/articles/PMC7073183/ /pubmed/32102357 http://dx.doi.org/10.3390/ijms21041536 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Bueno Marinas, Maria
Celeghin, Rudy
Cason, Marco
Bariani, Riccardo
Frigo, Anna Chiara
Jager, Joanna
Syrris, Petros
Elliott, Perry M.
Bauce, Barbara
Thiene, Gaetano
Corrado, Domenico
Basso, Cristina
Pilichou, Kalliopi
A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
title A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
title_full A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
title_fullStr A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
title_full_unstemmed A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
title_short A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
title_sort microrna expression profile as non-invasive biomarker in a large arrhythmogenic cardiomyopathy cohort
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073183/
https://www.ncbi.nlm.nih.gov/pubmed/32102357
http://dx.doi.org/10.3390/ijms21041536
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