PDGF-BB serum levels are decreased in adult onset Pompe patients

Esther Fernández-Simón, Ana Carrasco-Rozas, Eduard Gallardo, Sebastián Figueroa-Bonaparte, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Xavier Suárez-Calvet, Jorge Alonso-Pérez, Sonia Segovia, Claudia Nuñez-Peralta, Jaume Llauger, Mercedes Mayos, Isabel Illa, Miguel Angel Barba-Romero, Joseba Barcena, María Rosario Carzorla, Carlota Creus, Jaume Coll-Cantí, Noemí de LunaManuel Díaz, Cristina Domínguez, Roberto Fernández-Torrón, María José García-Antelo, Josep María Grau, María Teresa Gómez-Caravaca, Juan Carlos León-Hernández, Adolfo López de Munáin, Francisco Antonio Martínez-García, Yolanda Morgado, Antonio Moreno, Germán Morís, Miguel Angel Muñoz-Blanco, Andres Nascimento, Carmen Paradas, José Luis Parajuá-Pozo, Luis Querol, Arturo Robledo-Strauss, Ricard Rojas-García, Íñigo Rojas-Marcos, Jose Antonio Salazar, Mercedes Usón, Jordi Díaz-Manera

Research output: Contribution to journalArticleResearch

1 Citation (Scopus)

Abstract

© 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.
Original languageEnglish
Article number2139
JournalScientific Reports
Volume9
DOIs
Publication statusPublished - 1 Dec 2019

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