Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies
Por:
Alonso-Jimenez, A, Fernandez-Simon, E, Benito, DND, Ortez, C, Garcia, C, Montiel, E, Belmonte, I, Pedrosa, I, Segovia, S, Pinol-Jurado, P, Carrasco-Rozas, A, Suarez-Calvet, X, Jimenez-Mallebrera, C, Nascimento, A, Llauger, J, Nunez-Peralta, C, Montesinos, P, Alonso-Perez, J, Gallardo, E, Illa, I, Diaz-Manera, J
Publicada:
11 jun 2021
Resumen:
Introduction: Duchenne (DMD) and Becker (BMD) muscular dystrophy are X-linked muscular disorders produced by mutations in the DMD gene which encodes the protein dystrophin. Both diseases are characterized by progressive involvement of skeletal, cardiac, and respiratory muscles. As new treatment strategies become available, reliable biomarkers and outcome measures that can monitor disease progression are needed for clinical trials. Methods: We collected clinical and functional data and blood samples from 19 DMD patients, 13 BMD patients, and 66 healthy controls (8 pediatric and 58 adult controls), and blood samples from 15 patients with dysferlinopathy (DYSF) and studied the serum concentration of 4 growth factors involved in the process of muscle fibrosis. We correlated the serum concentration of these growth factors with several muscle function tests, spirometry results and fat fraction identified by quantitative Dixon muscle MRI. Results: We found significant differences in the serum concentration of Platelet Derived Growth Factor-AA (PDGF-AA) between DMD patients and pediatric controls, in Connective Tissue Growth Factor (CTGF) between BMD patients and adult controls, and in and Transforming Growth Factor- beta 1 (TGF-beta 1) between BMD and DYSF patients. PDGF-AA showed a good correlation with several muscle function tests for both DMD and BMD patients and with thigh fat fraction in BMD patients. Moreover, PDGF-AA levels were increased in muscle biopsies of patients with DMD and BMD as was demonstrated by immunohistochemistry and Real-Time PCR studies. Conclusion: Our study suggests that PDGF-AA should be further investigated in a larger cohort of DMD and BMD patients because it might be a good biomarker candidate to monitor the progression of these diseases.
Filiaciones:
Alonso-Jimenez, A:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Univ Antwerp Hosp, Neuromuscular Reference Ctr, Dept Neurol, Antwerp, Belgium
Fernandez-Simon, E:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Newcastle Univ, Int Ctr Life, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
Benito, DND:
Hosp St Joan Deu, Inst Recerca St Joan Deu, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain
Ortez, C:
Hosp St Joan Deu, Inst Recerca St Joan Deu, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain
Garcia, C:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Montiel, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Belmonte, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Pedrosa, I:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
Segovia, S:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Pinol-Jurado, P:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Newcastle Univ, Int Ctr Life, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
Carrasco-Rozas, A:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Suarez-Calvet, X:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Jimenez-Mallebrera, C:
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Hosp St Joan Deu, Inst Recerca St Joan Deu, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain
Univ Barcelona, Dept Genet Microbiol & Estadist, Barcelona, Spain
Nascimento, A:
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Hosp St Joan Deu, Inst Recerca St Joan Deu, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain
Llauger, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Radiol, Barcelona, Spain
Nunez-Peralta, C:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Radiol, Barcelona, Spain
Montesinos, P:
Philips Healthcare Iberia, Madrid, Spain
Alonso-Perez, J:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Gallardo, E:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Illa, I:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Diaz-Manera, J:
Univ Autonoma Barcelona, Dept Med, Hosp Santa Creu & St Pau, Neuromuscular Disorders Unit,Neurol Dept, Barcelona, Spain
Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain
Newcastle Univ, Int Ctr Life, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
gold, Green Published
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