Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

Sci Rep. 2020 Jun 22;10(1):10111. doi: 10.1038/s41598-020-66940-8.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biomarkers / blood
  • Child
  • Child, Preschool
  • DNA, Mitochondrial
  • Female
  • Fibroblast Growth Factors
  • Growth Differentiation Factor 15 / blood
  • Growth Differentiation Factor 15 / metabolism*
  • Growth Differentiation Factor 15 / physiology
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mitochondrial Diseases / blood
  • Muscle, Skeletal
  • Muscular Diseases / metabolism
  • Prognosis
  • Thymidine Kinase / deficiency*
  • Thymidine Kinase / metabolism

Substances

  • Biomarkers
  • DNA, Mitochondrial
  • GDF15 protein, human
  • Growth Differentiation Factor 15
  • fibroblast growth factor 21
  • Fibroblast Growth Factors
  • thymidine kinase 2
  • Thymidine Kinase