title: Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
abstract: BACKGROUND
  Dysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary defect in some other gene. Dysferlin is also expressed in peripheral blood monocytes (PBM). Studying dysferlin in monocytes is used for the diagnosis of dysferlin myopathies. The aim of the study was to determine whether dysferlin expression in PBM correlates with that in skeletal muscle.
  
  
  RESULTS
  Using western-blot (WB) we quantified dysferlin expression in PBM from 21 pathological controls with other myopathies in whom mutations in DYSF were excluded and from 17 patients who had dysferlinopathy and two mutations in DYSF. Results were compared with protein expression in muscle by WB and immunohistochemistry (IH). We found a good correlation between skeletal muscle and monocytes using WB. However, IH results were misleading because abnormal expression of dysferlin was also observed in 13/21 pathological controls.
  
  
  CONCLUSIONS
  The analysis of dysferlin protein expression in PBM is helpful when: 1) the skeletal muscle IH pattern is abnormal or 2) when muscle WB can not be performed either because muscle sample is lacking or insufficient or because the muscle biopsy is taken from a muscle at an end-stage and it mainly consists of fat and fibrotic tissue.
authors.affiliation: Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.
authors.forename: Eduard
authors.initials: E
authors.lastname: Gallardo
authors.forename: Noemi
authors.initials: N
authors.lastname: de Luna
authors.forename: Jordi
authors.initials: J
authors.lastname: Diaz-Manera
authors.forename: Ricardo
authors.initials: R
authors.lastname: Rojas-García
authors.forename: Lidia
authors.initials: L
authors.lastname: Gonzalez-Quereda
authors.forename: Bàrbara
authors.initials: B
authors.lastname: Flix
authors.forename: Antoine
authors.initials: A
authors.lastname: de Morrée
authors.forename: Silvère
authors.initials: S
authors.lastname: van der Maarel
authors.forename: Isabel
authors.initials: I
authors.lastname: Illa
mesh_terms: D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005260:Female; D006801:Humans; D018950:Lipopolysaccharide Receptors / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D009000:Monocytes / Q000378:metabolism*; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000378:metabolism* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D012995:Solubility
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D018950:Lipopolysaccharide Receptors; D008565:Membrane Proteins; D009124:Muscle Proteins