Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy
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DOI：
10.1093/hmg/7.13.2135
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发表时间：
1998-12-01
影响因子：
3.5
通讯作者：
Bressan, GM
中科院分区：
文献类型：
--
作者：
Bonaldo, P;Braghetta, P;Bressan, GM
为了深入了解VI型胶原蛋白的功能，在小鼠中通过靶向基因破坏使col6a1基因失活。纯合突变体缺乏胶原VI的组织，并表现出肌病的组织学特征，如纤维坏死和吞噬作用和纤维直径的显着变化。肌肉也显示出纤维再生的迹象。在所有年龄段的膈肌中，坏死纤维特别常见。类似的，虽然温和，在杂合突变小鼠中检测到的变化，表明col6a1基因功能的单倍不足。这些数据使我们得出结论，VI型胶原蛋白是必要的维持完整的肌纤维和col6a1缺陷的小鼠可以被认为是一种动物模型的Bethlem肌病。
To gain insight into the function of type VI collagen, the col6a1 gene was inactivated by targeted gene disruption in the mouse. The homozygous mutants lacked collagen VI in the;tissues and showed histological features of myopathy such as fiber necrosis and phagocytosis and a pronounced variation in the fiber diameter. Muscles also showed signs of stimulated regeneration of fibers. Necrotic fibers were particularly frequent in the diaphragm at all ages examined. Similar, although milder, alterations were detected in heterozygous mutant mice, indicating haploinsufficiency of the col6a1 gene function. The data led us to conclude that collagen VI is necessary for maintenance of the integrity of muscle fibers and that the col6a1-deficient mouse can be considered an animal model of Bethlem myopathy.