Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. GDF-15 and FGF-21 were measured in serum from 24 pati...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2020 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:2445/176888 |
| Acceso en línea: | https://hdl.handle.net/2445/176888 |
| Access Level: | acceso abierto |
| Palabra clave: | Marcadors bioquímics Mitocondris Biochemical markers Mitochondria |
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyDomínguez González, CristinaBadosa, CarmenMadruga Garrido, MarcosMartí, ItxasoParadas, CarmenOrtez, Carlos IgnacioDíaz Manera, JordiBerardo, AndrésAlonso Pérez, JorgeTrifunov, SelenaCuadras, DanielKalko, Susana G.Blázquez Bermejo, CoraCámara Navarro, YolandaMartí, RamonMavillard, FabiolaMartín, Miguel A.Montoya, JulioRuíz Pesini, EduardoVillarroya i Terrade, JoanMontero Sánchez, RaquelVillarroya i Gombau, FrancescArtuch Iriberri, RafaelHirano, MichioNascimento, AndrésJiménez Mallebrera, CeciliaMarcadors bioquímicsMitocondrisBiochemical markersMitochondriaGDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. GDF-15 and FGF-21 were measured in serum from 24 patients with TK2 deficiency treated 1-49 months with oral deoxynucleosides. Patients were grouped according to age at treatment and biomarkers were analyzed at baseline and various time points after treatment initiation. GDF-15 was elevated on average 30-fold in children and 6-fold in adults before the start of treatment. There was a significant correlation between basal GDF-15 and severity based on pretreatment distance walked (6MWT) and weight (BMI). During treatment, GDF-15 significantly declined, and the decrease was accompanied by relevant clinical improvements. The decline was greater in the paediatric group, which included the most severe patients and showed the greatest clinical benefit, than in the adult patients. The decline of FGF-21 was less prominent and consistent. GDF-15 is a potential biomarker of severity and of therapeutic response for patients with TK2 deficiency. In addition, we show evidence of clinical benefit of deoxynucleoside treatment, especially when treatment is initiated at an early age.Nature Publishing Group2021202120202021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion13 p.application/pdfhttps://hdl.handle.net/2445/176888Articles publicats en revistes (Bioquímica i Biomedicina Molecular)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1038/s41598-020-66940-8Scientific Reports, 2020, vol. 10, num. 1, p. 10111https://doi.org/10.1038/s41598-020-66940-8cc-by (c) Domínguez González, Cristina et al., 2020http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:recercat.cat:2445/1768882026-05-29T05:05:01Z |
| dc.title.none.fl_str_mv |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| title |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| spellingShingle |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy Domínguez González, Cristina Marcadors bioquímics Mitocondris Biochemical markers Mitochondria |
| title_short |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| title_full |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| title_fullStr |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| title_full_unstemmed |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| title_sort |
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| dc.creator.none.fl_str_mv |
Domínguez González, Cristina Badosa, Carmen Madruga Garrido, Marcos Martí, Itxaso Paradas, Carmen Ortez, Carlos Ignacio Díaz Manera, Jordi Berardo, Andrés Alonso Pérez, Jorge Trifunov, Selena Cuadras, Daniel Kalko, Susana G. Blázquez Bermejo, Cora Cámara Navarro, Yolanda Martí, Ramon Mavillard, Fabiola Martín, Miguel A. Montoya, Julio Ruíz Pesini, Eduardo Villarroya i Terrade, Joan Montero Sánchez, Raquel Villarroya i Gombau, Francesc Artuch Iriberri, Rafael Hirano, Michio Nascimento, Andrés Jiménez Mallebrera, Cecilia |
| author |
Domínguez González, Cristina |
| author_facet |
Domínguez González, Cristina Badosa, Carmen Madruga Garrido, Marcos Martí, Itxaso Paradas, Carmen Ortez, Carlos Ignacio Díaz Manera, Jordi Berardo, Andrés Alonso Pérez, Jorge Trifunov, Selena Cuadras, Daniel Kalko, Susana G. Blázquez Bermejo, Cora Cámara Navarro, Yolanda Martí, Ramon Mavillard, Fabiola Martín, Miguel A. Montoya, Julio Ruíz Pesini, Eduardo Villarroya i Terrade, Joan Montero Sánchez, Raquel Villarroya i Gombau, Francesc Artuch Iriberri, Rafael Hirano, Michio Nascimento, Andrés Jiménez Mallebrera, Cecilia |
| author_role |
author |
| author2 |
Badosa, Carmen Madruga Garrido, Marcos Martí, Itxaso Paradas, Carmen Ortez, Carlos Ignacio Díaz Manera, Jordi Berardo, Andrés Alonso Pérez, Jorge Trifunov, Selena Cuadras, Daniel Kalko, Susana G. Blázquez Bermejo, Cora Cámara Navarro, Yolanda Martí, Ramon Mavillard, Fabiola Martín, Miguel A. Montoya, Julio Ruíz Pesini, Eduardo Villarroya i Terrade, Joan Montero Sánchez, Raquel Villarroya i Gombau, Francesc Artuch Iriberri, Rafael Hirano, Michio Nascimento, Andrés Jiménez Mallebrera, Cecilia |
| 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 |
| dc.subject.none.fl_str_mv |
Marcadors bioquímics Mitocondris Biochemical markers Mitochondria |
| topic |
Marcadors bioquímics Mitocondris Biochemical markers Mitochondria |
| description |
GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. GDF-15 and FGF-21 were measured in serum from 24 patients with TK2 deficiency treated 1-49 months with oral deoxynucleosides. Patients were grouped according to age at treatment and biomarkers were analyzed at baseline and various time points after treatment initiation. GDF-15 was elevated on average 30-fold in children and 6-fold in adults before the start of treatment. There was a significant correlation between basal GDF-15 and severity based on pretreatment distance walked (6MWT) and weight (BMI). During treatment, GDF-15 significantly declined, and the decrease was accompanied by relevant clinical improvements. The decline was greater in the paediatric group, which included the most severe patients and showed the greatest clinical benefit, than in the adult patients. The decline of FGF-21 was less prominent and consistent. GDF-15 is a potential biomarker of severity and of therapeutic response for patients with TK2 deficiency. In addition, we show evidence of clinical benefit of deoxynucleoside treatment, especially when treatment is initiated at an early age. |
| publishDate |
2020 |
| dc.date.none.fl_str_mv |
2020 2021 2021 2021 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/2445/176888 |
| url |
https://hdl.handle.net/2445/176888 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Reproducció del document publicat a: https://doi.org/10.1038/s41598-020-66940-8 Scientific Reports, 2020, vol. 10, num. 1, p. 10111 https://doi.org/10.1038/s41598-020-66940-8 |
| dc.rights.none.fl_str_mv |
cc-by (c) Domínguez González, Cristina et al., 2020 http://creativecommons.org/licenses/by/3.0/es info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
cc-by (c) Domínguez González, Cristina et al., 2020 http://creativecommons.org/licenses/by/3.0/es |
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openAccess |
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13 p. application/pdf |
| dc.publisher.none.fl_str_mv |
Nature Publishing Group |
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Nature Publishing Group |
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Articles publicats en revistes (Bioquímica i Biomedicina Molecular) reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Recercat. Dipósit de la Recerca de Catalunya |
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Recercat. Dipósit de la Recerca de Catalunya |
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