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...

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Detalles Bibliográficos
Autores: 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
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
Descripción
Sumario: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.

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