title: Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy.
abstract: OBJECTIVE
  The aim of this study was to investigate whether inflammation and regeneration are prominent in mildly affected muscles of patients with facioscapulohumeral muscular dystrophy type 1A (FSHD1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A.
  
  
  METHODS
  We analysed immunohistological and histological stains of muscle biopsies from 24 patients with FSHD1A, using 10 patients with Becker muscular dystrophy (BMD) for comparison.
  
  
  RESULTS
  Internalized nuclei were more prevalent in BMD (23.7 ± 10.8%) vs FSHD1A (6.3 ± 6.8%; P < 0.001), indicating more past regenerating fibres in BMD. Recently regenerating fibres, expressing neonatal myosin heavy chain and vimentin, did not differ significantly between patients with FSHD1A (1.1 ± 2.9%) and patients with BMD (1.8 ± 1.9%). Regeneration was not correlated with the number of KpnI restriction fragment repeats, an FSHD1A-defining genotype property within the D4Z4 locus, or overall disease severity in patients with FSHD1A. Macrophages were more prevalent in FSHD1A (0.50 ± 0.63 per mm(2) ) vs BMD (0.07 ± 0.07 per mm(2) ), whereas inflammatory T cells were equally infrequent.
  
  
  CONCLUSIONS
  Macrophages were more prevalent in patients with FSHD1A and could be an important pathogenic mechanism for the initiation of the dystrophic process. Furthermore, regeneration was unrelated to genotype and disease severity in FSHD1A.
authors: Neuromuscular Research Unit, Department of Neurology, Rigs hospitalet, University of Copenhagen, Copenhagen, Denmark.
authors: S
authors: S
authors: Hauerslev
authors: M C
authors: MC
authors: Ørngreen
authors: J M
authors: JM
authors: Hertz
authors: J
authors: J
authors: Vissing
authors: T O
authors: TO
authors: Krag
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000378:metabolism; D015214:Antigens, Differentiation, Myelomonocytic / Q000378:metabolism; D017209:Apoptosis; D005260:Female; D005838:Genotype; D006801:Humans; D020287:In Situ Nick-End Labeling; D007249:Inflammation / Q000150:complications*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D020388:Muscular Dystrophy, Duchenne / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000473:pathology*; D018995:Myosin Heavy Chains / Q000378:metabolism; D011065:Poly(ADP-ribose) Polymerases / Q000378:metabolism; D015800:Protozoan Proteins; D012038:Regeneration / Q000502:physiology*; D012720:Severity of Illness Index; D014746:Vimentin / Q000378:metabolism; D055815:Young Adult; D000097382:CD68 Molecule
chemical_list: D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; D008562:Membrane Glycoproteins; D018995:Myosin Heavy Chains; D011065:Poly(ADP-ribose) Polymerases; D015800:Protozoan Proteins; D014746:Vimentin; C067980:CD68 antigen, human; D000097382:CD68 Molecule; C053277:procyclic acidic repetitive protein, Trypanosoma
keywords: FSHD1A; inflammation; internally nucleated fibres; muscle regeneration; neonatal myosin heavy chain