Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two Myosclerosis myopathy patients (Abstract/Poster in atti di convegno)

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  • Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two Myosclerosis myopathy patients (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Alternative label
  • Sabatelli P, Grumati P, Merlini L, Martoni E, Zamparelli A, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Stallcup WB, Bonaldo P. (2008)
    Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two Myosclerosis myopathy patients
    in Convegno annuale dellÂ’Associazione Italiana di Miologia (AIM) 5-7 giugno 2008., Pisa
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Sabatelli P, Grumati P, Merlini L, Martoni E, Zamparelli A, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Stallcup WB, Bonaldo P. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Collagen VI is an extracellular component of vascular subendothelium, where it is responsible for von Willebrand factor-dependent platelet adhesion under tensile strength, platelet derived growth factor and NG2-proteoglycan binding. We studied the muscle biopsy of two brothers with Myosclerosis myopathy, characterized by the presence of a marked limitation of movement of all joints and a firm-woody consistence of the muscles on palpation, at an early stage of the disease. The patients had a novel homozygous nonsense COL6A2 mutation (Q819X); the mutated mRNA was translated into a truncated ±2(VI) chain, lacking the sole C2 domain. In skeletal muscle, this mutation caused a partial deficiency of collagen VI at the basal lamina of muscle fibers and a complete absence around the capillary wall of the endomysium. Ultrastructural studies evidenced thickening and duplication of capillary basal lamina. The number of perivascular pericytes was abnormally increased. In order to characterize the pericyte phenotype in Myosclerosis patients we performed an immunohistochemical and electron microscopy study and compared the alterations with collagen VI deficent UCMD patients, COL6a1 -/- and NG2 -/- mice. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • IGM-CNR Unit of Bologna (literal)
Titolo
  • Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two Myosclerosis myopathy patients (literal)
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