Acta Neuropathologica

, Volume 104, Issue 1, pp 67–71

Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease

  • Takahito Niiyama
  • Itsuro Higuchi
  • Masahito Suehara
  • Teruto Hashiguchi
  • Tadafumi Shiraishi
  • Masanori Nakagawa
  • Kimiyoshi Arimura
  • Ikuro Maruyama
  • Mitsuhiro Osame
Regular Paper

Abstract.

By electron microscopy, we examined the skeletal muscle from two patients with Ullrich's disease. One patient had a deletion in the collagen VI alpha 2 gene. The muscle biopsy specimens showed no collagen VI immunoreaction, while the expression of collagen IV was increased. Collagen VI is a microfibrillar protein in the extracellular matrix with cell adhesive properties, and collagen IV is a principal component of the basal lamina. Electron microscopy revealed unevenness, extension, and folding of the muscle plasma membrane, and showed thickening and overproduction of the basal lamina. The data show that type VI collagen is certainly one of the important extracellular matrix components maintaining the structural integrity of skeletal muscle, and a defect of the collagen VI protein causes abnormalities of the muscle plasma membrane, dystrophic muscle changes, and up-regulation of collagen IV.

Collagen VI Collagen IV Ullrich's disease Plasma membrane Basal lamina 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Takahito Niiyama
    • 1
  • Itsuro Higuchi
    • 1
  • Masahito Suehara
    • 2
  • Teruto Hashiguchi
    • 3
  • Tadafumi Shiraishi
    • 1
  • Masanori Nakagawa
    • 1
  • Kimiyoshi Arimura
    • 1
  • Ikuro Maruyama
    • 3
  • Mitsuhiro Osame
    • 1
  1. 1.Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Kagoshima, 8-35-1 Sakuragaoka, Kagoshima 890-8520Japan
  2. 2.National Okinawa Hospital, OkinawaJapan
  3. 3.Department of Laboratory and Molecular Medicine, Faculty of Medicine, Kagoshima University, KagoshimaJapan

Personalised recommendations