RT journal article
T1 Role of miRNA–mRNA Interactome in Pathophysiology of Arrhythmogenic Cardiomyopathy
A1 Bonet Martínez, Fernando
A1 Campuzano, Oscar
A1 Córdoba Caballero, José
A1 Alcalde, Mireia
A1 Sarquella-Brugada, Georgia
A1 Braza-Boïls, Aitana
A1 Brugada, Ramón
A1 Hernandez-Torres, Francisco
A1 Quezada-Feijoó, Maribel
A1 Ramos, Mónica
A1 Mangas Rojas, Alipio
A1 Ranea, Juan A.G.
A1 Toro Cebada, Rocío
A2 Medicina
K1 arrhythmogenic cardiomyopathy
K1 sudden cardiac death
K1 RNA sequencing
K1 microRNA
K1 miRNA–mRNA
AB Arrhythmogenic cardiomyopathy is an inherited entity characterized by irregular cell–celladhesion, cardiomyocyte death and fibro-fatty replacement of ventricular myocytes, leading to malignantventricular arrythmias, contractile dysfunction and sudden cardiac death. Pathogenic variantsin genes that encode desmosome are the predominant cause of arrhythmogenic cardiomyopathy.Moreover, signalling pathways such as Wnt/ß-catenin and transforming growth factor-β have beeninvolved in the disease progression. However, still little is known about the molecular pathophysiologicalmechanisms that underlie arrhythmogenic cardiomyopathy pathogenesis. We used mRNAand small RNA sequencing to analyse the transcriptome of health and arrhythmogenic cardiomyopathyof autopsied human hearts. Our results showed 697 differentially expressed genes and eightdifferentially expressed miRNAs. Functional enrichment revealed mitochondrial respiratory-relatedpathways, impaired response to oxidative stress, apoptotic signalling pathways and inflammatory response-related and extracellular matrix response pathways. Furthermore, analysis of the miRNA–mRNA interactome identified eleven negatively correlated miRNA-target pairs for arrhythmogeniccardiomyopathy. Our finding revealed novel arrhythmogenic cardiomyopathy-related miRNAs withimportant regulatory function in disease pathogenesis, highlighting their value as potential keytargets for therapeutic approaches.
PB MDPI
SN 2227-9059
YR 2024
FD 2024-08-09
LK http://hdl.handle.net/10498/36039
UL http://hdl.handle.net/10498/36039
LA eng
DS Repositorio Institucional de la Universidad de Cádiz
RD 22-sep-2026