Mizuno Y, Nonaka I, Hirai S, Ozawa E
National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
J Neurol Sci. 1993 Oct;119(1):43-52. doi: 10.1016/0022-510x(93)90190-a.
We examined muscle biopsies from patients with Duchenne muscular dystrophy (DMD: 39 patients) and Becker muscular dystrophy (BMD: 11 patients), female DMD-carriers (4 patients), and control subjects (26 persons) for the expression of dystrophin and utrophin. Control subjects showed all fibers to be dystrophin-positive, while utrophin staining was negative or weak. On the other hand, muscles from DMD patients showed the inverse staining patterns: dystrophin was negative and utrophin staining strong. Thus, there was a reciprocal pattern of expression between dystrophin and utrophin. This reciprocal relationship was confirmed to some extent at the single-fiber level in female carriers of DMD showing a mosaic immunostaining of dystrophin. We consider that utrophin may have a function similar to that of dystrophin, and compensate to some extent for dystrophin deficiency in DMD.
我们检查了杜氏肌营养不良症（DMD：39例患者）、贝克肌营养不良症（BMD：11例患者）、女性DMD携带者（4例患者）以及对照受试者（26人）的肌肉活检样本，以检测抗肌萎缩蛋白和促肌萎缩蛋白的表达情况。对照受试者的所有肌纤维抗肌萎缩蛋白染色均呈阳性，而促肌萎缩蛋白染色为阴性或弱阳性。另一方面，DMD患者的肌肉呈现相反的染色模式：抗肌萎缩蛋白为阴性，促肌萎缩蛋白染色强阳性。因此，抗肌萎缩蛋白和促肌萎缩蛋白之间存在相互表达模式。在表现为抗肌萎缩蛋白镶嵌免疫染色的DMD女性携带者的单纤维水平上，这种相互关系在一定程度上得到了证实。我们认为促肌萎缩蛋白可能具有与抗肌萎缩蛋白类似的功能，并在一定程度上补偿DMD中抗肌萎缩蛋白的缺乏。
