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...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:223847 |
| Acceso en línea: | https://ddd.uab.cat/record/223847 https://dx.doi.org/urn:doi:10.1038/s41598-018-38025-0 |
| Access Level: | acceso abierto |
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PDGF-BB serum levels are decreased in adult onset Pompe patientsFernández Simón, Esther|||0000-0003-4804-6553Carrasco-Rozas, Ana|||0000-0003-2165-8162Gallardo, Eduard|||0000-0002-3942-3436Figueroa-Bonaparte, Sebastian|||0000-0002-6546-1321Belmonte Jimeno, Izaskun|||0000-0003-0930-6586Pedrosa Hernández, IreneMontiel Morillo, ElenaSuarez-Calvet, Xavier|||0000-0002-5314-6607Alonso Pérez, Jorge|||0000-0001-8866-5186Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799Llauger, Jaume|||0000-0002-3744-3257Mayos, Merce|||0000-0003-3972-3671Illa, Isabel|||0000-0002-2186-2684Barba Romero, Miguel Ángel|||0000-0001-5076-607XBarcena, JosebaCarzorla, María RosarioCreus, CarlotaColl-Cantí, Jaume|||0000-0001-7128-1186Luna Salva, Noemí de|||0000-0002-4342-794XDíaz, ManuelDomínguez-González, Cristina|||0000-0001-5151-988XFernandez-Torron, Roberto|||0000-0002-2202-8165García-Antelo, María JoséGrau, Josep MaríaGómez-Caravaca, María TeresaLeón-Hernández, Juan CarlosLópez de Munáin, AdolfoMartínez-García, Francisco AntonioMorgado, YolandaMoreno Camacho, Asunción|||0000-0001-6382-0039Morís, Germán|||0000-0001-7608-2194Muñoz-Blanco, Miguel AngelNascimento, AndresParadas, Carmen|||0000-0002-6917-2236Parajuá-Pozo, José LuisQuerol, Luis|||0000-0002-4289-8264Robledo-Strauss, ArturoRojas-Garcia, Ricard|||0000-0003-1411-5573Rojas-Marcos, ÍñigoSalazar, Jose AntonioUsón, MercedesDiaz-Manera, Jordi|||0000-0003-2941-7988Adult 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.Universitat Autònoma de Barcelona 22019-01-0120192019-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/223847https://dx.doi.org/urn:doi:10.1038/s41598-018-38025-0reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI15-01822open 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:2238472026-06-06T12:50:31Z |
| dc.title.none.fl_str_mv |
PDGF-BB serum levels are decreased in adult onset Pompe patients |
| title |
PDGF-BB serum levels are decreased in adult onset Pompe patients |
| spellingShingle |
PDGF-BB serum levels are decreased in adult onset Pompe patients Fernández Simón, Esther|||0000-0003-4804-6553 |
| title_short |
PDGF-BB serum levels are decreased in adult onset Pompe patients |
| title_full |
PDGF-BB serum levels are decreased in adult onset Pompe patients |
| title_fullStr |
PDGF-BB serum levels are decreased in adult onset Pompe patients |
| title_full_unstemmed |
PDGF-BB serum levels are decreased in adult onset Pompe patients |
| title_sort |
PDGF-BB serum levels are decreased in adult onset Pompe patients |
| dc.creator.none.fl_str_mv |
Fernández Simón, Esther|||0000-0003-4804-6553 Carrasco-Rozas, Ana|||0000-0003-2165-8162 Gallardo, Eduard|||0000-0002-3942-3436 Figueroa-Bonaparte, Sebastian|||0000-0002-6546-1321 Belmonte Jimeno, Izaskun|||0000-0003-0930-6586 Pedrosa Hernández, Irene Montiel Morillo, Elena Suarez-Calvet, Xavier|||0000-0002-5314-6607 Alonso Pérez, Jorge|||0000-0001-8866-5186 Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799 Llauger, Jaume|||0000-0002-3744-3257 Mayos, Merce|||0000-0003-3972-3671 Illa, Isabel|||0000-0002-2186-2684 Barba Romero, Miguel Ángel|||0000-0001-5076-607X Barcena, Joseba Carzorla, María Rosario Creus, Carlota Coll-Cantí, Jaume|||0000-0001-7128-1186 Luna Salva, Noemí de|||0000-0002-4342-794X Díaz, Manuel Domínguez-González, Cristina|||0000-0001-5151-988X Fernandez-Torron, Roberto|||0000-0002-2202-8165 García-Antelo, María José Grau, Josep María Gómez-Caravaca, María Teresa León-Hernández, Juan Carlos López de Munáin, Adolfo Martínez-García, Francisco Antonio Morgado, Yolanda Moreno Camacho, Asunción|||0000-0001-6382-0039 Morís, Germán|||0000-0001-7608-2194 Muñoz-Blanco, Miguel Angel Nascimento, Andres Paradas, Carmen|||0000-0002-6917-2236 Parajuá-Pozo, José Luis Querol, Luis|||0000-0002-4289-8264 Robledo-Strauss, Arturo Rojas-Garcia, Ricard|||0000-0003-1411-5573 Rojas-Marcos, Íñigo Salazar, Jose Antonio Usón, Mercedes Diaz-Manera, Jordi|||0000-0003-2941-7988 |
| author |
Fernández Simón, Esther|||0000-0003-4804-6553 |
| author_facet |
Fernández Simón, Esther|||0000-0003-4804-6553 Carrasco-Rozas, Ana|||0000-0003-2165-8162 Gallardo, Eduard|||0000-0002-3942-3436 Figueroa-Bonaparte, Sebastian|||0000-0002-6546-1321 Belmonte Jimeno, Izaskun|||0000-0003-0930-6586 Pedrosa Hernández, Irene Montiel Morillo, Elena Suarez-Calvet, Xavier|||0000-0002-5314-6607 Alonso Pérez, Jorge|||0000-0001-8866-5186 Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799 Llauger, Jaume|||0000-0002-3744-3257 Mayos, Merce|||0000-0003-3972-3671 Illa, Isabel|||0000-0002-2186-2684 Barba Romero, Miguel Ángel|||0000-0001-5076-607X Barcena, Joseba Carzorla, María Rosario Creus, Carlota Coll-Cantí, Jaume|||0000-0001-7128-1186 Luna Salva, Noemí de|||0000-0002-4342-794X Díaz, Manuel Domínguez-González, Cristina|||0000-0001-5151-988X Fernandez-Torron, Roberto|||0000-0002-2202-8165 García-Antelo, María José Grau, Josep María Gómez-Caravaca, María Teresa León-Hernández, Juan Carlos López de Munáin, Adolfo Martínez-García, Francisco Antonio Morgado, Yolanda Moreno Camacho, Asunción|||0000-0001-6382-0039 Morís, Germán|||0000-0001-7608-2194 Muñoz-Blanco, Miguel Angel Nascimento, Andres Paradas, Carmen|||0000-0002-6917-2236 Parajuá-Pozo, José Luis Querol, Luis|||0000-0002-4289-8264 Robledo-Strauss, Arturo Rojas-Garcia, Ricard|||0000-0003-1411-5573 Rojas-Marcos, Íñigo Salazar, Jose Antonio Usón, Mercedes Diaz-Manera, Jordi|||0000-0003-2941-7988 |
| author_role |
author |
| author2 |
Carrasco-Rozas, Ana|||0000-0003-2165-8162 Gallardo, Eduard|||0000-0002-3942-3436 Figueroa-Bonaparte, Sebastian|||0000-0002-6546-1321 Belmonte Jimeno, Izaskun|||0000-0003-0930-6586 Pedrosa Hernández, Irene Montiel Morillo, Elena Suarez-Calvet, Xavier|||0000-0002-5314-6607 Alonso Pérez, Jorge|||0000-0001-8866-5186 Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799 Llauger, Jaume|||0000-0002-3744-3257 Mayos, Merce|||0000-0003-3972-3671 Illa, Isabel|||0000-0002-2186-2684 Barba Romero, Miguel Ángel|||0000-0001-5076-607X Barcena, Joseba Carzorla, María Rosario Creus, Carlota Coll-Cantí, Jaume|||0000-0001-7128-1186 Luna Salva, Noemí de|||0000-0002-4342-794X Díaz, Manuel Domínguez-González, Cristina|||0000-0001-5151-988X Fernandez-Torron, Roberto|||0000-0002-2202-8165 García-Antelo, María José Grau, Josep María Gómez-Caravaca, María Teresa León-Hernández, Juan Carlos López de Munáin, Adolfo Martínez-García, Francisco Antonio Morgado, Yolanda Moreno Camacho, Asunción|||0000-0001-6382-0039 Morís, Germán|||0000-0001-7608-2194 Muñoz-Blanco, Miguel Angel Nascimento, Andres Paradas, Carmen|||0000-0002-6917-2236 Parajuá-Pozo, José Luis Querol, Luis|||0000-0002-4289-8264 Robledo-Strauss, Arturo Rojas-Garcia, Ricard|||0000-0003-1411-5573 Rojas-Marcos, Íñigo Salazar, Jose Antonio Usón, Mercedes 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 author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universitat Autònoma de Barcelona |
| description |
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. |
| publishDate |
2019 |
| dc.date.none.fl_str_mv |
2 2019-01-01 2019 2019-01-01 |
| 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/223847 https://dx.doi.org/urn:doi:10.1038/s41598-018-38025-0 |
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https://ddd.uab.cat/record/223847 https://dx.doi.org/urn:doi:10.1038/s41598-018-38025-0 |
| dc.language.none.fl_str_mv |
Inglés eng |
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Inglés |
| language |
eng |
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Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI15-01822 |
| dc.rights.none.fl_str_mv |
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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Universitat Autònoma de Barcelona |
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Dipòsit Digital de Documents de la UAB |
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