Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications
until further notice
SourceNeurology, 83, 2, (2014), pp. 125-133
Article / Letter to editor
Display more detailsDisplay less details
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
SubjectRadboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences; Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences; Radboudumc 6: Metabolic Disorders RIHS: Radboud Institute for Health Sciences; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 9: Rare cancers RIMLS: Radboud Institute for Molecular Life Sciences
To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation.In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in leukocytes and urinary epithelial cells. The Newcastle Mitochondrial Disease Adult Scale score was determined and blood was drawn for measuring FGF21 concentration. Twenty-five of the included initial patients studied were then selected randomly for a follow-up study.This prognostic study included 99 adult carriers of the m.3243A>G mutation. Our analysis revealed a moderate, significant correlation between FGF21 concentration and disease severity (r = 0.49; p = <0.001). No significant correlations were found between disease severity and the heteroplasmy percentage determined in urinary epithelial cells or the heteroplasmy percentage determined in leukocytes. Weak but significant correlations were also found between FGF21 concentration and the severity of the myopathy (r = 0.38; p = <0.001) and between the concentration of FGF21 and the severity of the encephalopathy (r = 0.30; p = <0.001). Repeated measurements following 25 subjects for 2 years revealed no significant correlation between FGF21 concentration and disease progression.Measuring FGF21 concentration had little added value in monitoring and predicting the disease course in this specific patient group.
Upload full text
Use your RU credentials (u/z-number and password) tolog in with SURFconextto upload a file for processing by the repository team.