Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies

Tagliavini, Francesca and Sardone, Francesca and Squarzoni, Stefano and Maraldi, Nadir Mario and Merlini, Luciano and Faldini, Cesare and Sabatelli, Patrizia (2013) Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies. M.L.T.J. Muscles, Ligaments and Tendons Journal, 3 (4). pp. 281-286. ISSN 2240-4554

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Collagen VI is an extracellular matrix protein expressed in several tissues including skeletal muscle. Mutations in COL6A genes cause Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Myosclerosis Myopathy (MM). Collagen VI deficiency causes increased opening of the mitochondrial permeability transition pore (mPTP), leading to ultrastructural and functional alterations of mitochondria, amplified by impairment of autophagy. Here we report for the first time ultrastructural studies on muscle biopsies from BM and UCMD patients, showing swollen mitochondria with hypodense matrix, disorganized cristae and paracrystalline inclusions, associated with dilated sarcoplasmic reticulum and apoptotic changes. These data were supported by scanning electron microscopy analysis on BM and UCMD cultured cells, showing alterations of the mitochondrial network. Morphometric analysis also revealed a reduced short axis and depicted swelling in about 3% of mitochondria. These data demonstrate that mitochondrial defects underlie the pathogenetic mechanism in muscle tissue of patients affected by collagen VI myopathies

Item Type: Article
Uncontrolled Keywords: Collagen VI, mitochondria, mPTP, scanning electron microscopy back-scattered imaging, transmission electron microscopy
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.7 Malattie del sistema muscoloscheletrico
Depositing User: Danilo Dezzi
Date Deposited: 14 Nov 2014 16:55
Last Modified: 14 Nov 2014 16:55
URI: http://eprints.bice.rm.cnr.it/id/eprint/10093

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