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

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...

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Detalles Bibliográficos
Autores: Fernandez-Simon, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, Figueroa-Bonaparte, Sebastian, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Suarez-Calvet, Xavier, Alonso-Perez, Jorge, Segovia, Sonia, Nunez-Peralta, Claudia, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Diaz-Manera, Jordi, Barba-Romero, Miguel Angel, Barcena, Joseba, Carzorla, Maria Rosario, Creus, Carlota, Coll-Canti, Jaume, de Luna, Noemi, Diaz, Manuel, Dominguez, Cristina, Fernandez-Torron, Roberto, Garcia-Antelo, Maria Jose, Grau, Josep Maria, Gomez Caravaca, Maria Teresa, Leon-Hernandez, Juan Carlos, Lopez de Munain, Adolfo, Martinez-Garcia, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Moris, German, Munoz-Blanco, Miguel Angel, Nascimento, Andres, Paradas, Carmen, Parajua-Pozo, Jose Luis, Querol, Luis, Robledo-Strauss, Arturo, Rojas-Garcia, Ricard, Rojas-Marcos, Inigo, Salazar, Jose Antonio, Uson Martin, Mercedes, Spanish Pompe Study Grp
Tipo de recurso: artículo
Fecha de publicación:2019
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/17650
Acceso en línea:https://hdl.handle.net/20.500.13003/17650
Access Level:acceso abierto
Palabra clave:Female
Follow-Up Studies
Muscle, Skeletal
Humans
Adolescent
Middle Aged
Prognosis
Muscular Diseases
Adult
Becaplermin
Male
Young Adult
Biomarkers
Case-Control Studies
Prospective Studies
Glycogen Storage Disease Type II
Child
Estudios de Casos y Controles
Niño
Becaplermina
Biomarcadores
Femenino
Enfermedades Musculares
Adolescente
Masculino
Estudios de Seguimiento
Enfermedad del Almacenamiento de Glucógeno Tipo II
Humanos
Persona de Mediana Edad
Estudios Prospectivos
Adulto Joven
Pronóstico
Músculo Esquelético
Adulto
Descripción
Sumario: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.

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