Miranda A F, Bonilla E, Martucci G, Moraes C T, Hays A P, Dimauro S
Department of Pathology, Columbia University, New York, New York.
Am J Pathol. 1988 Sep;132(3):410-6.
Using immunocytochemical methods, the localization of dystrophin, the gene product affected in Duchenne muscular dystrophy (DMD) in aneural, differentiating human muscle cultures, was studied. Dystrophin was not demonstrable in undifferentiated myoblasts from control patients and from two patients with DMD. After myoblast fusion, the protein was found in circumscribed sarcoplasmic patches, in the perinuclear area, and along the surface of all normal multinucleate myotubes, with more mature myotubes showing predominantly sarcolemmal distribution. There was no staining in myotubes from one DMD patient and only faint diffuse fluorescence in myotubes from the second affected boy, however. These data provide further evidence that dystrophin is a sarcolemma-associated protein, that it is developmentally regulated, and that it is absent or greatly reduced in quantity in skeletal muscle cultures from patients with DMD.
利用免疫细胞化学方法，研究了抗肌萎缩蛋白（杜兴氏肌营养不良症（DMD）中受影响的基因产物）在无神经、正在分化的人类肌肉培养物中的定位。在来自对照患者和两名DMD患者的未分化成肌细胞中未检测到抗肌萎缩蛋白。成肌细胞融合后，该蛋白出现在局限的肌浆斑块、核周区域以及所有正常多核肌管的表面，较成熟的肌管主要显示肌膜分布。然而，一名DMD患者的肌管中没有染色，另一名患病男孩的肌管中只有微弱的弥漫性荧光。这些数据进一步证明，抗肌萎缩蛋白是一种与肌膜相关的蛋白，其表达受发育调控，并且在DMD患者的骨骼肌培养物中缺失或数量大幅减少。
