Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
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DOI：
10.1002/mus.21030
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发表时间：
2008-09-01
期刊：
影响因子：
3.4
通讯作者：
Nishino, Ichizo
中科院分区：
文献类型：
--
作者：
Kawahara, Genri;Ogawa, Megumu;Nishino, Ichizo
在Ullrich先天性肌营养不良症中，由于COL6基因的杂合突变，VI型胶原蛋白保留在结缔组织中，但在肌膜中丢失。我们发现，与对照相比，突变的胶原VI与细胞外基质的结合能力显著降低。这表明COL6基因的杂合突变减少了胶原VI微纤维对肌细胞周围细胞外基质的锚定。这是肌膜特异性胶原VI缺乏的原因。
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.