TY - JOUR
T1 - PDGF-BB serum levels are decreased in adult onset Pompe patients
AU - Fernández-Simón, Esther
AU - Carrasco-Rozas, Ana
AU - Gallardo, Eduard
AU - Figueroa-Bonaparte, Sebastián
AU - Belmonte, Izaskun
AU - Pedrosa, Irene
AU - Montiel, Elena
AU - Suárez-Calvet, Xavier
AU - Alonso-Pérez, Jorge
AU - Segovia, Sonia
AU - Nuñez-Peralta, Claudia
AU - Llauger, Jaume
AU - Mayos, Mercedes
AU - Illa, Isabel
AU - Barba-Romero, Miguel Angel
AU - Barcena, Joseba
AU - Carzorla, María Rosario
AU - Creus, Carlota
AU - Coll-Cantí, Jaume
AU - de Luna, Noemí
AU - Díaz, Manuel
AU - Domínguez, Cristina
AU - Fernández-Torrón, Roberto
AU - García-Antelo, María José
AU - Grau, Josep María
AU - Gómez-Caravaca, María Teresa
AU - León-Hernández, Juan Carlos
AU - López de Munáin, Adolfo
AU - Martínez-García, Francisco Antonio
AU - Morgado, Yolanda
AU - Moreno, Antonio
AU - Morís, Germán
AU - Muñoz-Blanco, Miguel Angel
AU - Nascimento, Andres
AU - Paradas, Carmen
AU - Parajuá-Pozo, José Luis
AU - Querol, Luis
AU - Robledo-Strauss, Arturo
AU - Rojas-García, Ricard
AU - Rojas-Marcos, Íñigo
AU - Salazar, Jose Antonio
AU - Usón, Mercedes
AU - Díaz-Manera, Jordi
PY - 2019/12/1
Y1 - 2019/12/1
N2 - © 2019, The Author(s). 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 TGFβ, 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.
AB - © 2019, The Author(s). 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 TGFβ, 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.
U2 - 10.1038/s41598-018-38025-0
DO - 10.1038/s41598-018-38025-0
M3 - Article
C2 - 30765719
VL - 9
M1 - 2139
ER -