Identification of serum microRNAs as potential biomarkers in Pompe disease
Por:
Carrasco-Rozas, A, Fernandez-Simon, E, Lleixa, MC, Belmonte, I, Pedrosa-Hernandez, I, Montiel-Morillo, E, Nunez-Peralta, C, Rossello, JL, Segovia, S, De Luna, N, Suarez-Calvet, X, Illa, I, Diaz-Manera, J, Gallardo, E, Barba-Romero, MA, Barcena, J, Carzorla, MR, Creus, C, Coll-Canti, J, de Luna, N, Diaz, M, Dominguez, C, Torron, RF, Antelo, MJG, Grau, JM, Caravaca, MTG, Hernandez, JCL, de Munain, AL, Martinez-Garcia, FA, Morgado, Y, Moreno, A, Moris, G, Munoz-Blanco, MA, Nascimento, A, Paradas, C, Pozo, JLP, Querol, L, Robledo-Strauss, A, Garcia, RR, Rojas-Marcos, I, Salazar, JA and Uson, M
Publicada:
1 jul 2019
Ahead of Print:
1 jun 2022
Resumen:
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.
Filiaciones:
Carrasco-Rozas, A:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Fernandez-Simon, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Lleixa, MC:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Belmonte, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Pedrosa-Hernandez, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Montiel-Morillo, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Nunez-Peralta, C:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Rossello, JL:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Radiol Dept, Barcelona, Spain
Segovia, S:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Radiol Dept, Barcelona, Spain
De Luna, N:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras, Valencia, Spain
Suarez-Calvet, X:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras, Valencia, Spain
Illa, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras, Valencia, Spain
Diaz-Manera, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras, Valencia, Spain
Gallardo, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras, Valencia, Spain
Barba-Romero, MA:
Hosp Gen Albacete, Albacete, Spain
Barcena, J:
Hosp Univ Cruces, Baracaldo, Spain
Carzorla, MR:
Hosp Puerta Hierro, Majadahonda, Spain
Creus, C:
Hosp Virgen de las Nieves, Granada, Spain
:
Hosp Germans Tries & Pujol, Badalona, Spain
de Luna, N:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Diaz, M:
Hosp Cabuenes, Gijon, Spain
Dominguez, C:
Hosp 12 Octubre, Madrid, Spain
Inst Invest I 12, Madrid, Spain
Torron, RF:
Hosp Univ Donostia, San Sebastian, Spain
Antelo, MJG:
Hosp Univ A Coruna, La Coruna, Spain
Grau, JM:
Hosp Clin Barcelona, Barcelona, Spain
Caravaca, MTG:
Hosp Cordoba, Cordoba, Spain
Hernandez, JCL:
Hosp Univ Nuestra Senora de la Candelaria, Tenerife, Spain
de Munain, AL:
Hosp Univ Donostia, San Sebastian, Spain
Martinez-Garcia, FA:
Hosp Clin Univ Virgen de la Arrixaca, Murcia, Spain
Morgado, Y:
Hosp Univ Virgen de Valme, Seville, Spain
Moreno, A:
Hosp Univ Morales Meseguer, Murcia, Spain
Moris, G:
Hosp Univ Asturias, Oviedo, Spain
Munoz-Blanco, MA:
Hosp Gregorio Maranon, Madrid, Spain
Nascimento, A:
Hosp Virgen del Rocio, Seville, Spain
Paradas, C:
Hosp Virgen del Rocio, Seville, Spain
Pozo, JLP:
Hosp Can Mises, Ibiza, Spain
Querol, L:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Robledo-Strauss, A:
Hosp Juan Ramon Jimenez, Huelva, Spain
Garcia, RR:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Rojas-Marcos, I:
Hosp Virgen de Macarena, Seville, Spain
Salazar, JA:
Hosp Reg Univ, Malaga, Spain
Uson, M:
Hosp Son Llatzer, Palma De Mallorca, Spain
gold, Green Published
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