Frontiers in Neurology (Jun 2021)
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies
- Alicia Alonso-Jiménez,
- Alicia Alonso-Jiménez,
- Esther Fernández-Simón,
- Esther Fernández-Simón,
- Esther Fernández-Simón,
- Daniel Natera-de Benito,
- Carlos Ortez,
- Carme García,
- Elena Montiel,
- Izaskun Belmonte,
- Irene Pedrosa,
- Sonia Segovia,
- Sonia Segovia,
- Patricia Piñol-Jurado,
- Patricia Piñol-Jurado,
- Patricia Piñol-Jurado,
- Ana Carrasco-Rozas,
- Ana Carrasco-Rozas,
- Xavier Suárez-Calvet,
- Xavier Suárez-Calvet,
- Cecilia Jimenez-Mallebrera,
- Cecilia Jimenez-Mallebrera,
- Cecilia Jimenez-Mallebrera,
- Andrés Nascimento,
- Andrés Nascimento,
- Jaume Llauger,
- Claudia Nuñez-Peralta,
- Paula Montesinos,
- Jorge Alonso-Pérez,
- Jorge Alonso-Pérez,
- Eduard Gallardo,
- Eduard Gallardo,
- Isabel Illa,
- Isabel Illa,
- Jordi Díaz-Manera,
- Jordi Díaz-Manera,
- Jordi Díaz-Manera
Affiliations
- Alicia Alonso-Jiménez
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Alicia Alonso-Jiménez
- Neurology Department, Neuromuscular Reference Center, University Hospital of Antwerp, Antwerp, Belgium
- Esther Fernández-Simón
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Esther Fernández-Simón
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Esther Fernández-Simón
- John Walton Muscular Dystrophy Research Centre, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
- Daniel Natera-de Benito
- Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain
- Carlos Ortez
- Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain
- Carme García
- Rehabilitation and Physiotherapy Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- Elena Montiel
- Rehabilitation and Physiotherapy Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- Izaskun Belmonte
- Rehabilitation and Physiotherapy Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- Irene Pedrosa
- Rehabilitation and Physiotherapy Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- Sonia Segovia
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Sonia Segovia
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Patricia Piñol-Jurado
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Patricia Piñol-Jurado
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Patricia Piñol-Jurado
- John Walton Muscular Dystrophy Research Centre, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
- Ana Carrasco-Rozas
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Ana Carrasco-Rozas
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Xavier Suárez-Calvet
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Xavier Suárez-Calvet
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Cecilia Jimenez-Mallebrera
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Cecilia Jimenez-Mallebrera
- Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain
- Cecilia Jimenez-Mallebrera
- Departamento de Genética, Microbiología y Estadística, Universidad de Barcelona, Barcelona, Spain
- Andrés Nascimento
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Andrés Nascimento
- Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain
- Jaume Llauger
- Radiology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- Claudia Nuñez-Peralta
- Radiology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- Paula Montesinos
- Philips Healthcare Iberia, Madrid, Spain
- Jorge Alonso-Pérez
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Jorge Alonso-Pérez
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Eduard Gallardo
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Eduard Gallardo
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Isabel Illa
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Isabel Illa
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Jordi Díaz-Manera
- Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Departament de Medicina. Universitat Autònoma de Barcelona, Barcelona, Spain
- Jordi Díaz-Manera
- Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
- Jordi Díaz-Manera
- John Walton Muscular Dystrophy Research Centre, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
- DOI
- https://doi.org/10.3389/fneur.2021.659922
- Journal volume & issue
-
Vol. 12
Abstract
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- β1 (TGF-β1) 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.
Keywords