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, Spanish Pompe Study Group, Díaz-Manera, Jordi
Tipo de recurso: artículo
Fecha de publicación:2019
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/22774
Acceso en línea:https://hdl.handle.net/20.500.12105/22774
Access Level:acceso abierto
Palabra clave: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
Niño
Adulto
Estudios de Casos y Controles
Child
Case-Control Studies
Young Adult
Adult
Muscle, Skeletal
Follow-Up Studies
Glycogen Storage Disease Type II
Humans
Adolescent
Middle Aged
Prognosis
Muscular Diseases
Becaplermin
Male
Biomarkers
Prospective Studies
Female
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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