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Macrophages: A minimally invasive tool for monitoring collagen VI myopathies
Author(s) -
Gualandi Francesca,
Curci Rosa,
Sabatelli Patrizia,
Martoni Elena,
Bovolenta Matteo,
Maraldi Mario N.,
Merlini Luciano,
Ferlini And Alessandra
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21999
Subject(s) - collagen vi , muscle biopsy , pathology , biopsy , myopathy , medicine , peripheral blood , muscular dystrophy , chemistry , extracellular matrix , biochemistry
Abstract Introduction: 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. Muscle Nerve 44: 80–84, 2011.