突变的胶原蛋白VI与心肌细胞周围细胞外基质的结合减少。

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.

作者信息

Kawahara Genri, Ogawa Megumu, Okada Mari, Malicdan May Christine V, Goto Yu-Ichi, Hayashi Yukiko K, Noguchi Satoru, Nishino Ichizo

机构信息

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.

出版信息

Muscle Nerve. 2008 Sep;38(3):1192-5. doi: 10.1002/mus.21030.

DOI:10.1002/mus.21030

PMID:18642359

Abstract

In Ullrich congenital muscular dystrophy, due to heterozygous mutations in COL6 genes, collagen VI is preserved in the interstitium but lost in the sarcolemma. We found that the binding ability of mutated collagen VI to extracellular matrix was markedly reduced compared to control. This indicates that heterozygous mutations in COL6 genes diminish the anchorage of collagen VI microfibrils to the extracellular matrix surrounding myocytes. This is the cause for sarcolemma-specific collagen VI deficiency.

摘要

在乌尔里希先天性肌营养不良中，由于COL6基因的杂合突变，胶原蛋白VI保留在间质中，但在肌膜中丢失。我们发现，与对照相比，突变的胶原蛋白VI与细胞外基质的结合能力明显降低。这表明COL6基因的杂合突变减少了胶原蛋白VI微纤维与肌细胞周围细胞外基质的锚定。这就是肌膜特异性胶原蛋白VI缺乏的原因。