PDGF-BB serum levels are decreased in adult onset Pompe patients.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
14 02 2019
14 02 2019
Historique:
received:
24
07
2018
accepted:
19
12
2018
entrez:
16
2
2019
pubmed:
16
2
2019
medline:
26
9
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 30765719
doi: 10.1038/s41598-018-38025-0
pii: 10.1038/s41598-018-38025-0
pmc: PMC6375999
doi:
Substances chimiques
Biomarkers
0
Becaplermin
1B56C968OA
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2139Investigateurs
Miguel Angel Barba-Romero
(MA)
Joseba Barcena
(J)
María Rosario Carzorla
(MR)
Carlota Creus
(C)
Jaume Coll-Cantí
(J)
Noemí de Luna
(N)
Manuel Díaz
(M)
Cristina Domínguez
(C)
Roberto Fernández-Torrón
(R)
María José García-Antelo
(MJ)
Josep María Grau
(JM)
María Teresa Gómez-Caravaca
(MT)
Juan Carlos León-Hernández
(JC)
Adolfo López de Munáin
(A)
Francisco Antonio Martínez-García
(FA)
Yolanda Morgado
(Y)
Antonio Moreno
(A)
Germán Morís
(G)
Miguel Angel Muñoz-Blanco
(MA)
Andres Nascimento
(A)
Carmen Paradas
(C)
José Luis Parajuá-Pozo
(JL)
Luis Querol
(L)
Arturo Robledo-Strauss
(A)
Ricard Rojas-García
(R)
Íñigo Rojas-Marcos
(Í)
Jose Antonio Salazar
(JA)
Mercedes Usón
(M)
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