RT Journal Article
T1 PDGF-BB serum levels are decreased in adult onset Pompe patients.
A1 Fernández-Simón, Esther
A1 Carrasco-Rozas, Ana
A1 Gallardo, Eduard
A1 Figueroa-Bonaparte, Sebastián
A1 Belmonte, Izaskun
A1 Pedrosa, Irene
A1 Montiel, Elena
A1 Suárez-Calvet, Xavier
A1 Alonso-Pérez, Jorge
A1 Segovia, Sonia
A1 Nuñez-Peralta, Claudia
A1 Llauger, Jaume
A1 Mayos, Mercedes
A1 Illa, Isabel
A1 Spanish Pompe Study Group, 
A1 Díaz-Manera, Jordi
AB 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.
YR 2019
FD 2019-02-14
LK http://hdl.handle.net/10668/13570
UL http://hdl.handle.net/10668/13570
LA en
DS RISalud
RD Apr 6, 2025