Identification of serum microRNAs as potential biomarkers in Pompe disease

• Published in: Annals of clinical and translational neurology Vol. 6; no. 7; pp. 1214 - 1224
• Main Authors: Carrasco‐Rozas, Ana, Fernández‐Simón, Esther, Lleixà, Maria Cinta, Belmonte, Izaskun, Pedrosa-Hernandez, Irene, Montiel-Morillo, Elena, Nuñez‐Peralta, Claudia, Llauger Rossello, Jaume, Segovia, Sonia, De Luna, Noemí, Suarez‐Calvet, Xavier, Illa, Isabel, Díaz‐Manera, Jordi, Gallardo, Eduard, Barba‐Romero, Miguel Angel, Barcena, Joseba, Carzorla, María Rosario, Creus, Carlota, Coll‐Cantí, Jaume, Díaz, Manuel, Domínguez, Cristina, Torrón, Roberto Fernández, García Antelo, María José, Grau, Josep María, Gómez Caravaca, María Teresa, León Hernández, Juan Carlos, López de Munáin, Adolfo, Martínez‐García, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Muñoz‐Blanco, Miguel Angel, Nascimento, Andres, Paradas, Carmen, Parajuá Pozo, José Luis, Querol, Luis, Robledo‐Strauss, Arturo, García, Ricard Rojas, Rojas‐Marcos, Íñigo, Salazar, Jose Antonio, Usón, Mercedes
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.07.2019; John Wiley and Sons Inc; Wiley
• Subjects: Adolescent; Adult; Biomarkers; Biomarkers - blood; Biopsy; Cardiomyopathy; Enzymes; Female; Gene expression; Gene Expression Profiling; Glycogen Storage Disease Type II - blood; Glycogen Storage Disease Type II - genetics; Humans; Male; MicroRNAs; MicroRNAs - analysis; MicroRNAs - blood; Middle Aged; Muscle function; Musculoskeletal system; Mutation; Patients; Statistical analysis; Young Adult
• ISSN: 2328-9503; 2328-9503
• DOI: 10.1002/acn3.50800

Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expression levels of microRNAs that were deregulated were further studied in 35 AOPD patients and 10 controls using Real‐Time PCR. Additionally, the skeletal muscle expression of microRNAs which showed significant increase levels in serum samples was also studied. Correlations between microRNA serum levels and muscle function test, spirometry, and quantitative muscle MRI were performed (these data correspond to the study NCT01914536 at ClinicalTrials.gov). Results We identified 14 microRNAs that showed different expression levels in serum samples of AOPD patients compared to controls. We validated these results in a larger cohort of patients and we found increased levels of three microRNAs, the so called dystromirs: miR‐1‐3p, miR‐133a‐3p, and miR‐206. These microRNAs are involved in muscle regeneration and the expression of these was increased in patients' muscle biopsies. Significant correlations between microRNA levels and muscle function test were found. Interpretation Serum expression levels of dystromirs may represent additional biomarkers for the follow‐up of AOPD patients.