Identification of serum microRNAs as potential biomarkers in Pompe disease

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 st...

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Detalles Bibliográficos
Autores: Carrasco-Rozas, Ana, Fernandez-Simon, Esther, Cinta Lleixa, Maria, Belmonte, Izaskun, Pedrosa-Hernandez, Irene, Montiel-Morillo, Elena, Nunez-Peralta, Claudia, Llauger Rossello, Jaume, Segovia, Sonia, de Luna, Noemi, Suarez-Calvet, Xavier, Illa, Isabel, Diaz-Manera, Jordi, Gallardo, Eduard, Barba-Romero, Miguel Angel, Barcena, Joseba, Carzorla, Maria Rosario, Creus, Carlota, Coll-Canti, Jaume, Diaz, Manuel, Dominguez, Cristina, Fernandez Torron, Roberto, Garcia Antelo, Maria Jose, Grau, Josep Maria, Gomez Caravaca, Maria Teresa, Leon Hernandez, Juan Carlos, Lopez de Munain, Adolfo, Martinez-Garcia, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Moris, German, Munoz-Blanco, Miguel Angel, Nascimento, Andres, Paradas, Carmen, Parajua-Pozo, Jose Luis, Querol, Luis, Robledo-Strauss, Arturo, Rojas Garcia, Ricard, Rojas-Marcos, Inigo, Salazar, Jose Antonio, Uson Martin, Mercedes, Pompe Spanish Study Grp
Tipo de recurso: artículo
Fecha de publicación:2019
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/17146
Acceso en línea:https://hdl.handle.net/20.500.13003/17146
Access Level:acceso abierto
Palabra clave:Humans
Adult
Male
Biomarkers
MicroRNAs
Young Adult
Female
Gene Expression Profiling
Glycogen Storage Disease Type II
Adolescent
Middle Aged
Enfermedad del Almacenamiento de Glucógeno Tipo II
MicroARNs
Masculino
Adolescente
Perfilación de la Expresión Génica
Adulto
Femenino
Adulto Joven
Persona de Mediana Edad
Biomarcadores
Humanos
Descripción
Sumario: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.

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