Macrophages: A minimally invasive tool for monitoring collagen VI myopathies

Autor: Mario N. Maraldi, Matteo Bovolenta, And Alessandra Ferlini, Luciano Merlini, E. Martoni, Patrizia Sabatelli, Rosa Curci, Francesca Gualandi
Přispěvatelé: Gualandi F, Curci R, Sabatelli P, Martoni E, Bovolenta M, Maraldi NM, Merlini L, Ferlini AA.
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Adult
Pathology
medicine.medical_specialty
Physiology
Ullrich congenital muscular dystrophy
Pilot Projects
Collagen Type VI
medicine.disease_cause
collagen VI
03 medical and health sciences
Cellular and Molecular Neuroscience
Bethlem myopathy
0302 clinical medicine
Muscular Diseases
Collagen VI
Physiology (medical)
Biopsy
Medicine
Macrophage
Humans
Myopathy
Child
Muscle
Skeletal
protein expression
Cells
Cultured
030304 developmental biology
Monocyte-derived macrophage
0303 health sciences
Mutation
Muscle biopsy
medicine.diagnostic_test
business.industry
monocyte-derived macrophages
Macrophages
Bethlem myopathy
collagen VI
monocyte-derived macrophages
protein expression
RNA behavior
Ullrich congenital muscular dystrophy
medicine.disease
3. Good health
Leukocytes
Mononuclear
Neurology (clinical)
medicine.symptom
RNA behavior
business
030217 neurology & neurosurgery
Zdroj: Muscle & Nerve; Vol 44
Muscle & Nerve
ISSN: 0148-639X
DOI: 10.1002/mus.21999
Popis: 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.
Databáze: OpenAIRE
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