Uchino M, Araki S, Miike T, Teramoto H, Nakamura T, Yasutake T
Department of Neurology, Saishunso Hospital, Kumamoto, Japan.
Muscle Nerve. 1989 Dec;12(12):1009-16. doi: 10.1002/mus.880121209.
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.
抗肌萎缩蛋白被推测为杜氏肌营养不良症（DMD）的致病蛋白，通过使用抗抗肌萎缩蛋白抗体进行免疫染色和蛋白质印迹法，对其细胞内定位和特性进行了研究。在正常对照以及患有除DMD和贝克肌营养不良症（BMD）之外的各种神经肌肉疾病的患者中，在肌纤维的整个表面膜上均能均匀检测到抗肌萎缩蛋白，而在DMD患者中则不存在，在BMD病例中部分观察到。BMD和女性DMD患者中抗肌萎缩蛋白的密度较低。在小鼠的骨骼肌和心肌中，抗肌萎缩蛋白也定位于肌肉表面膜，并且也提示其在脑中存在。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小鼠中的肌纤维坏死可能是质膜不稳定的结果。
