Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders
Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders
复制标题
杜氏肌营养不良症和各种神经肌肉疾病的肌肉活检标本中肌营养不良蛋白的定位和表征
作者：
M. Uchino;S. Araki;T. Miike;Hitoo Teramoto;Tetsuji Nakamura;T. Yasutake
应用抗肌营养不良蛋白（Dystrophin）抗体，对Dystrophin进行细胞内定位和免疫印迹分析。在正常对照组和各种神经肌肉疾病的患者以外的DMD和贝克尔的肌营养不良症（BMD），肌营养不良蛋白检测均匀的肌纤维的整个表面膜上，而它是不存在的DMD患者和部分观察到的BMD病例。BMD和女性DMD患者肌营养不良蛋白密度较低。在小鼠骨骼肌和心肌中，肌营养不良蛋白也定位于肌肉表面膜，并且也表明其存在于大脑中。然而，在mdx小鼠中未检测到抗肌萎缩蛋白。这些数据表明，DMD患者和mdx小鼠的肌纤维坏死可能是质膜不稳定的结果。
Dystrophin, surmised to be the causative protein of Duchenne muscular dystrophy (DMD) was studied for its intracellular localization and characterization by immunostaining and Western blotting using antidystrophin antibodies. In normal controls and in patients with various neuromuscular diseases other than DMD and Becker's muscular dystrophy (BMD), dystrophin was detected homogeneously on the entire surface membrane of the muscle fibers, whereas it was absent in DMD patients and partially observed in BMD cases. The density of dystrophin was low in BMD and female DMD patients. In mouse skeletal and cardiac muscles, too, dystrophin localized in the muscle surface membrane, and its presence in the brain was also suggested. However, dystrophin was not detected in mdx mice. These data suggest that myofiber necrosis in DMD patients and mdx mice is likely to be the result of plasma membrane instability.