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Publication year
2014Source
Neurology, 83, 2, (2014), pp. 125-133ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Nuclear Medicine
Medical Imaging
Laboratory Medicine
Health Evidence
Internal Medicine
Journal title
Neurology
Volume
vol. 83
Issue
iss. 2
Page start
p. 125
Page end
p. 133
Subject
Radboudumc 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 SciencesAbstract
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.
This item appears in the following Collection(s)
- Academic publications [204994]
- Electronic publications [103280]
- Faculty of Medical Sciences [81051]
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