title: Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases.
abstract: Human fibroblast growth factor 21 (FGF21) is a regulator of lipid and glucose metabolism. It is expressed in skeletal muscle and may be a sensitive and specific marker for mitochondrial diseases and other neuromuscular disorders.
  
  
  
  Serum FGF21 levels were determined in 71 human samples. Thirty patients with mitochondrial disease, 16 patients with myotonic dystrophy type 1 (DM1), 5 patients with facioscapulohumeral dystrophy, and 20 healthy controls were enrolled. Results Serum FGF21 levels were significantly elevated in patients with progressive external ophthalmoplegia and DM1 compared with patients with facioscapulohumeral dystrophy, other types of mitochondrial diseases, and controls. In the mitochondrial disorder group, serum FGF21 levels were related to the number of ragged blue fibers. Significant insulin resistance was found in DM1 that might be responsible for FGF21 elevation. Conclusions FGF21 elevation may be associated with certain types of mitochondrial disease, and it is influenced by insulin resistance. Muscle Nerve 55: 564-569, 2017.
authors.affiliation: Department of Neurology, University of Pécs, Pécs, Rét u. 2, Hungary.
authors.forename: Emese
authors.initials: E
authors.lastname: Lovadi
authors.affiliation: Department of Neurology, University of Pécs, Pécs, Rét u. 2, Hungary.
authors.forename: Márta
authors.initials: M
authors.lastname: Csereklyei
authors.affiliation: Department of Neurology, University of Pécs, Pécs, Rét u. 2, Hungary.
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Merkli
authors.affiliation: Neuropathology Unit, Department of Pathology, University of Pécs, Hungary.
authors.forename: Krisztina
authors.initials: K
authors.lastname: FüLöp
authors.affiliation: Department of Neurology, University of Pécs, Pécs, Rét u. 2, Hungary.
authors.forename: Ágnes
authors.initials: Á
authors.lastname: Sebők
authors.affiliation: Department of Molecular Genetics, National Institute of Environmental Health, Budapest, Hungary.
authors.forename: Veronika
authors.initials: V
authors.lastname: Karcagi
authors.affiliation: Department of Neurology, University of Pécs, Pécs, Rét u. 2, Hungary.
authors.forename: Sámuel
authors.initials: S
authors.lastname: Komoly
authors.affiliation: Department of Neurology, University of Pécs, Pécs, Rét u. 2, Hungary.
authors.forename: Endre
authors.initials: E
authors.lastname: Pál
mesh_terms: D000328:Adult; D000368:Aged; D003402:Creatine Kinase / Q000097:blood*; D004272:DNA, Mitochondrial / Q000235:genetics; D018450:Disease Progression; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005346:Fibroblast Growth Factors / Q000097:blood* / Q000235:genetics; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000097:blood* / Q000209:etiology*; D018482:Muscle, Skeletal / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000097:blood / Q000150:complications; D009223:Myotonic Dystrophy / Q000097:blood* / Q000150:complications* / Q000235:genetics; D009886:Ophthalmoplegia / Q000097:blood / Q000503:physiopathology; D013223:Statistics as Topic; D013972:Thyrotropin / Q000097:blood
chemical_list: D004272:DNA, Mitochondrial; C414620:fibroblast growth factor 21; D019344:Lactic Acid; D005346:Fibroblast Growth Factors; D013972:Thyrotropin; D003402:Creatine Kinase
keywords: FGF21; biomarkers in NMD; insulin resistance; mitochondrial diseases; myotonic dystrophy