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...

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Detalhes 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, Pompe Spanish Study group, Diaz-Manera, Jordi, Gallardo, Eduard, Parajua-Pozo, Jose Luis, Uson Martin, Mercedes
Formato: artículo
Fecha de publicación:2019
País:España
Recursos:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/22825
Acesso em linha:https://hdl.handle.net/20.500.12105/22825
Access Level:acceso abierto
Palavra-chave:Enfermedad del Almacenamiento de Glucégeno Tipo II
Humanos
Persona de Mediana Edad
Biomarcadores
Adulto Joven
Femenino
Adulto
Perfilación de la Expresión Génica
Adolescente
Masculino
MicroARNs
Male
Biomarkers
MicroRNAs
Young Adult
Adult
Female
Gene Expression Profiling
Glycogen Storage Disease Type II
Humans
Adolescent
Middle Aged
Descrição
Resumo: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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