Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies
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 stra...
| Autores: | , , , , , , , , , , , , , , , , , , , , |
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| Tipo de documento: | artigo |
| Data de publicação: | 2021 |
| País: | España |
| Recursos: | Universitat Autònoma de Barcelona |
| Repositório: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglês |
| OAI Identifier: | oai:ddd.uab.cat:256414 |
| Acesso em linha: | https://ddd.uab.cat/record/256414 https://dx.doi.org/urn:doi:10.3389/fneur.2021.659922 |
| Access Level: | Acceso aberto |
| Palavra-chave: | PDGF MRI Biomarker Duchenne Becker Dystrophinopathy |
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Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in DystrophinopathiesAlonso-Jiménez, Alicia|||0000-0002-2200-9255Fernández Simón, Esther|||0000-0003-4804-6553Natera-de Benito, Daniel|||0000-0001-7764-2085Ortez González, Carlos Ignacio|||0000-0001-8187-8103García, CarmeMontiel Morillo, ElenaBelmonte Jimeno, Izaskun|||0000-0003-0930-6586Pedrosa Hernández, IreneSegovia, SoniaPiñol-Jurado, Patricia|||0000-0002-2757-5758Carrasco-Rozas, Ana|||0000-0003-2165-8162Suarez-Calvet, Xavier|||0000-0002-5314-6607Jiménez Mallebrera, Cecilia|||0000-0001-8203-7103Nascimento, AndrésLlauger, Jaume|||0000-0002-3744-3257Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799Montesinos, Paula|||0000-0001-6944-7730Alonso Pérez, Jorge|||0000-0001-8866-5186Gallardo, Eduard|||0000-0002-3942-3436Illa, Isabel|||0000-0002-2186-2684Diaz-Manera, Jordi|||0000-0003-2941-7988PDGFMRIBiomarkerDuchenneBeckerDystrophinopathyIntroduction: 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. 22021-01-0120212021-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/256414https://dx.doi.org/urn:doi:10.3389/fneur.2021.659922reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengMinisterio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/01822Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18/1525Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/00122Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 CD18/00195open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2564142026-06-06T12:50:31Z |
| dc.title.none.fl_str_mv |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies |
| title |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies |
| spellingShingle |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies Alonso-Jiménez, Alicia|||0000-0002-2200-9255 PDGF MRI Biomarker Duchenne Becker Dystrophinopathy |
| title_short |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies |
| title_full |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies |
| title_fullStr |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies |
| title_full_unstemmed |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies |
| title_sort |
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies |
| dc.creator.none.fl_str_mv |
Alonso-Jiménez, Alicia|||0000-0002-2200-9255 Fernández Simón, Esther|||0000-0003-4804-6553 Natera-de Benito, Daniel|||0000-0001-7764-2085 Ortez González, Carlos Ignacio|||0000-0001-8187-8103 García, Carme Montiel Morillo, Elena Belmonte Jimeno, Izaskun|||0000-0003-0930-6586 Pedrosa Hernández, Irene Segovia, Sonia Piñol-Jurado, Patricia|||0000-0002-2757-5758 Carrasco-Rozas, Ana|||0000-0003-2165-8162 Suarez-Calvet, Xavier|||0000-0002-5314-6607 Jiménez Mallebrera, Cecilia|||0000-0001-8203-7103 Nascimento, Andrés Llauger, Jaume|||0000-0002-3744-3257 Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799 Montesinos, Paula|||0000-0001-6944-7730 Alonso Pérez, Jorge|||0000-0001-8866-5186 Gallardo, Eduard|||0000-0002-3942-3436 Illa, Isabel|||0000-0002-2186-2684 Diaz-Manera, Jordi|||0000-0003-2941-7988 |
| author |
Alonso-Jiménez, Alicia|||0000-0002-2200-9255 |
| author_facet |
Alonso-Jiménez, Alicia|||0000-0002-2200-9255 Fernández Simón, Esther|||0000-0003-4804-6553 Natera-de Benito, Daniel|||0000-0001-7764-2085 Ortez González, Carlos Ignacio|||0000-0001-8187-8103 García, Carme Montiel Morillo, Elena Belmonte Jimeno, Izaskun|||0000-0003-0930-6586 Pedrosa Hernández, Irene Segovia, Sonia Piñol-Jurado, Patricia|||0000-0002-2757-5758 Carrasco-Rozas, Ana|||0000-0003-2165-8162 Suarez-Calvet, Xavier|||0000-0002-5314-6607 Jiménez Mallebrera, Cecilia|||0000-0001-8203-7103 Nascimento, Andrés Llauger, Jaume|||0000-0002-3744-3257 Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799 Montesinos, Paula|||0000-0001-6944-7730 Alonso Pérez, Jorge|||0000-0001-8866-5186 Gallardo, Eduard|||0000-0002-3942-3436 Illa, Isabel|||0000-0002-2186-2684 Diaz-Manera, Jordi|||0000-0003-2941-7988 |
| author_role |
author |
| author2 |
Fernández Simón, Esther|||0000-0003-4804-6553 Natera-de Benito, Daniel|||0000-0001-7764-2085 Ortez González, Carlos Ignacio|||0000-0001-8187-8103 García, Carme Montiel Morillo, Elena Belmonte Jimeno, Izaskun|||0000-0003-0930-6586 Pedrosa Hernández, Irene Segovia, Sonia Piñol-Jurado, Patricia|||0000-0002-2757-5758 Carrasco-Rozas, Ana|||0000-0003-2165-8162 Suarez-Calvet, Xavier|||0000-0002-5314-6607 Jiménez Mallebrera, Cecilia|||0000-0001-8203-7103 Nascimento, Andrés Llauger, Jaume|||0000-0002-3744-3257 Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799 Montesinos, Paula|||0000-0001-6944-7730 Alonso Pérez, Jorge|||0000-0001-8866-5186 Gallardo, Eduard|||0000-0002-3942-3436 Illa, Isabel|||0000-0002-2186-2684 Diaz-Manera, Jordi|||0000-0003-2941-7988 |
| author2_role |
author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
PDGF MRI Biomarker Duchenne Becker Dystrophinopathy |
| topic |
PDGF MRI Biomarker Duchenne Becker Dystrophinopathy |
| description |
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. |
| publishDate |
2021 |
| dc.date.none.fl_str_mv |
2 2021-01-01 2021 2021-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
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article |
| dc.identifier.none.fl_str_mv |
https://ddd.uab.cat/record/256414 https://dx.doi.org/urn:doi:10.3389/fneur.2021.659922 |
| url |
https://ddd.uab.cat/record/256414 https://dx.doi.org/urn:doi:10.3389/fneur.2021.659922 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/01822 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18/1525 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/00122 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 CD18/00195 |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
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reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona |
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