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Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy
Author(s) -
Hauerslev S.,
Ørngreen M. C.,
Hertz J. M.,
Vissing J.,
Krag T. O.
Publication year - 2013
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/ane.12109
Subject(s) - facioscapulohumeral muscular dystrophy , muscular dystrophy , dystrophy , inflammation , regeneration (biology) , medicine , pathology , vimentin , myosin , genotype , gastroenterology , biology , genetics , immunohistochemistry , gene , biophysics
Background and Objectives 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 ( FSHD 1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD 1A. Methods We analysed immunohistological and histological stains of muscle biopsies from 24 patients with FSHD 1A, using 10 patients with Becker muscular dystrophy ( BMD ) for comparison. Results Internalized nuclei were more prevalent in BMD (23.7 ± 10.8%) vs FSHD 1A (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 FSHD 1A (1.1 ± 2.9%) and patients with BMD (1.8 ± 1.9%). Regeneration was not correlated with the number of Kpn I restriction fragment repeats, an FSHD 1A‐defining genotype property within the D4Z4 locus, or overall disease severity in patients with FSHD 1A. Macrophages were more prevalent in FSHD 1A (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 FSHD 1A and could be an important pathogenic mechanism for the initiation of the dystrophic process. Furthermore, regeneration was unrelated to genotype and disease severity in FSHD 1A.