We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease.
- Authors
Niiyama, Takahito; Higuchi, Itsuro; Suehara, Masahito; Hashiguchi, Teruto; Shiraishi, Tadafumi; Nakagawa, Masanori; Arimura, Kimiyoshi; Maruyama, Ikuro; Osame, Mitsuhiro
- 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.
- Subjects
EXTRACELLULAR matrix proteins; COLLAGEN; CELL membranes; ELECTRON microscopy; CLINICAL pathology; BIOPSY
- Publication
Acta Neuropathologica, 2002, Vol 104, Issue 1, p67
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-002-0522-z