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

Francesca Tagliavini, Francesca Sardone, Stefano Squarzoni, Nadir Mario Maraldi, Luciano Merlini, Cesare Faldini, Patrizia Sabatelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)281-286
Number of pages6
JournalMuscles, Ligaments and Tendons Journal
Issue number4
Publication statusPublished - Oct 2013


  • Collagen VI
  • Mitochondria
  • mPTP
  • Scanning electron microscopy back-scattered imaging
  • Transmission electron microscopy

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine


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