PDGF-BB serum levels are decreased in adult onset Pompe patients
Por:
Fernandez-Simon, E, Carrasco-Rozas, A, Gallardo, E, Figueroa-Bonaparte, S, Belmonte, I, Pedrosa, I, Montiel, E, Suarez-Calvet, X, Alonso-Perez, J, Segovia, S, Nunez-Peralta, C, Llauger, J, Mayos, M, Illa, I, Diaz-Manera, J, Barba-Romero, MA, Barcena, J, Carzorla, MR, Creus, C, Coll-Canti, J, de Luna, N, Diaz, M, Dominguez, C, Fernandez-Torron, R, Garcia-Antelo, MJ, Grau, JM, Gomez-Caravaca, MT, Leon-Hernandez, JC, de Munain, AL, Martinez-Garcia, FA, Morgado, Y, Moreno, A, Moris, G, Munoz-Blanco, MA, Nascimento, A, Paradas, C, Parajua-Pozo, JL, Querol, L, Robledo-Strauss, A, Rojas-Garcia, R, Rojas-Marcos, I, Salazar, JA, Uson, M
Publicada:
14 feb 2019
Resumen:
Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. Motor functional tests and spirometry are commonly used to follow patients up. However, a serological biomarker that correlates with the progression of the disease could improve follow-up. We studied serum concentrations of TGF beta, PDGF-BB, PDGF-AA and CTGF growth factors in 37 adult onset Pompe patients and 45 controls. Moreover, all patients performed several muscle function tests, conventional spirometry, and quantitative muscle MRI using 3-point Dixon. We observed a statistically significant change in the serum concentration of each growth factor in patients compared to controls. However, only PDGF-BB levels were able to differentiate between asymptomatic and symptomatic patients, suggesting its potential role in the follow-up of asymptomatic patients. Moreover, our results point to a dysregulation of muscle regeneration as an additional pathomechanism of Pompe disease.
Filiaciones:
Fernandez-Simon, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Carrasco-Rozas, A:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Gallardo, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Red Enfermedades Raras CIBERER, Barcelona, Spain
Figueroa-Bonaparte, S:
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, Rehabil & Physiotherapy Dept, Barcelona, Spain
Pedrosa, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Montiel, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Suarez-Calvet, X:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Red Enfermedades Raras CIBERER, Barcelona, Spain
Alonso-Perez, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Segovia, S:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Red Enfermedades Raras CIBERER, Barcelona, Spain
Nunez-Peralta, C:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Radiol Dept, Barcelona, Spain
Llauger, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Radiol Dept, Barcelona, Spain
Mayos, M:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Resp Dept, Barcelona, Spain
Illa, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Red Enfermedades Raras CIBERER, Barcelona, Spain
Diaz-Manera, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Barba-Romero, MA:
Hosp Gen Albacete, Albacete, Spain
Barcena, J:
Hosp Univ Cruces, Baracaldo, Spain
Carzorla, MR:
Hosp Puerta de Hierro, Majadahonda, Spain
Creus, C:
Hosp Virgen de las Nieves, Granada, Spain
Coll-Canti, J:
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 Red Enfermedades Raras CIBERER, Barcelona, Spain
Diaz, M:
Hosp Cabuenes, Gijon, Spain
Dominguez, C:
Hosp 12 Octubre, Madrid, Spain
Inst Invest I 12, Madrid, Spain
Fernandez-Torron, R:
Hosp Univ Donostia, Donostia San Sebastian, Spain
Garcia-Antelo, MJ:
Hosp Univ A Coruna, La Coruna, Spain
Grau, JM:
Hosp Clin Barcelona, Barcelona, Spain
Gomez-Caravaca, MT:
Hosp Cordoba, Cordoba, Spain
Leon-Hernandez, JC:
Hosp Univ Nuestra Senora de la Candelaria, Tenerife, Spain
de Munain, AL:
Hosp Univ Donostia, 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 St Joan de Deu, Barcelona, Spain
Paradas, C:
Hosp Virgen del Rocio, Seville, Spain
Parajua-Pozo, JL:
Hosp Can Mises, Ibiza, Spain
Querol, L:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Red Enfermedades Raras CIBERER, Barcelona, Spain
Robledo-Strauss, A:
Hosp Juan Ramon Jimenez, Huelva, Spain
Rojas-Garcia, R:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Red Enfermedades Raras CIBERER, Barcelona, Spain
Rojas-Marcos, I:
Hosp Virgen de Macarena, Seville, Spain
Salazar, JA:
Hosp Reg Univ Malaga, Malaga, Spain
Uson, M:
Hosp Son Llatzer, Palma De Mallorca, Mallorca, Spain
Gold, Green Published
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