title: Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.
abstract: BACKGROUND
  Collagen VI expression was tested in peripheral blood macrophages from patients with collagen VI-related myopathies and compared with muscle biopsy.
  
  
  METHODS
  RNA and protein studies were performed in blood macrophages from 5 patients previously diagnosed with either Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM). The full spectrum of possible genotypes was considered, including both dominant and recessive UCMD and BM cases.
  
  
  RESULTS
  In the dominant BM patient, no collagen VI alterations were detectable in macrophages or muscle biopsy. In the remaining patients, the protein defect caused by the selected mutations, as well as the transcriptional abnormalities, were readily detectable in macrophages, at levels comparable to those observed in muscle biopsy samples and cultured skin fibroblasts.
  
  
  CONCLUSIONS
  Our data support the suitability of peripheral blood macrophages as a reliable, minimally invasive tool for supplementing or replacing muscle/skin biopsies in the diagnosis and monitoring of collagen VI-related myopathies.
authors.affiliation: Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universitá di Ferrara, Ferrara, Italy. gdf@unife
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.forename: Rosa
authors.initials: R
authors.lastname: Curci
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Elena
authors.initials: E
authors.lastname: Martoni
authors.forename: Matteo
authors.initials: M
authors.lastname: Bovolenta
authors.forename: Mario N
authors.initials: MN
authors.lastname: Maraldi
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlini
authors.forename: And Alessandra
authors.initials: AA
authors.lastname: Ferlini
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D002648:Child; D024142:Collagen Type VI / Q000096:biosynthesis* / Q000097:blood; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000378:metabolism / Q000473:pathology; D008264:Macrophages / Q000378:metabolism* / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000097:blood* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D010865:Pilot Projects
chemical_list: D024142:Collagen Type VI