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| Home > Articles > Published articles > Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
| Home > Articles > Published articles > Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy |
(Centro de Investigación Biomédica en Red de Enfermedades Raras) (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) (Institut de Recerca Sant Joan de Déu) (Institut d'Investigació Biomèdica Sant Pau) (Institut d'Investigació Biomèdica Sant Pau) (Fundació Privada per a la Recerca i Docència Sant Joan de Déu) (Moebius Research Ltd, London, UK) (Hospital Universitari Vall d'Hebron. Institut de Recerca) (Hospital Universitari Vall d'Hebron. Institut de Recerca) (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) (Universidad de Zaragoza) (Universidad de Zaragoza) (Institut de Recerca Sant Joan de Déu) (Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición) (Institut de Recerca Sant Joan de Déu) (Columbia University Medical Center) (Universitat de Barcelona)| Date: | 2020 |
| Abstract: | 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. |
| Grants: | Instituto de Salud Carlos III PI16/01843 Instituto de Salud Carlos III PI16/00579 Instituto de Salud Carlos III CP09/00011 Instituto de Salud Carlos III PI15/00431 Instituto de Salud Carlos III PI17/00109 Instituto de Salud Carlos III PI18/01574 Instituto de Salud Carlos III PMP15/00025 Ministerio de Ciencia e Innovación SAF2017-85722 Ministerio de Ciencia e Innovación SAF2017-87506-R |
| Rights: | Aquest 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.  |
| Language: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Subject: | Genetics ; Neuroscience ; Biomarkers ; Diseases ; Neurology |
| Published in: | Scientific reports, Vol. 10 (june 2020) , ISSN 2045-2322 |
