Wessels A, Ginjaar I B, Moorman A F, van Ommen G J
Department of Anatomy and Embryology, University of Amsterdam, Academic Medical Centre, The Netherlands.
Muscle Nerve. 1991 Jan;14(1):1-7. doi: 10.1002/mus.880140102.
Duchenne and Becker muscular dystrophy are caused by defects in dystrophin synthesis. Using affinity-purified polyclonal anti-dystrophin antibodies, we have studied immunohistochemically the subcellular localization of dystrophin in embryonic, fetal, and adult human skeletal muscle. In the embryonic stages dystrophin first appears in the sarcoplasm at the peripheral ends of the myotubes, immediately adjacent to the tendons, whereas in fetal stages dystrophin is found throughout the entire myofibers. In agreement with literature data, in adult muscle dystrophin expression was found to be restricted to the sarcolemma. The sarcoplasmic localization in embryonic and fetal tissue and the sarcolemmal localization of dystrophin in mature muscle suggests the accumulation of dystrophin in the cytoplasm prior to its integration into the membrane. These results increase our knowledge of the ontogenesis of dystrophin and may lead to a better understanding of the great diversity in pathological cases of Duchenne and Becker muscular dystrophy.
杜兴氏和贝克氏肌营养不良症是由肌营养不良蛋白合成缺陷引起的。我们使用亲和纯化的多克隆抗肌营养不良蛋白抗体，通过免疫组织化学方法研究了肌营养不良蛋白在胚胎、胎儿和成人骨骼肌中的亚细胞定位。在胚胎阶段，肌营养不良蛋白首先出现在肌管外周末端的肌浆中，紧邻肌腱，而在胎儿阶段，肌营养不良蛋白则存在于整个肌纤维中。与文献数据一致，在成人肌肉中，肌营养不良蛋白的表达仅限于肌膜。肌营养不良蛋白在胚胎和胎儿组织中的肌浆定位以及在成熟肌肉中的肌膜定位表明，肌营养不良蛋白在整合到膜之前先在细胞质中积累。这些结果增加了我们对肌营养不良蛋白个体发生的了解，并可能有助于更好地理解杜兴氏和贝克氏肌营养不良症病理病例中的巨大差异。
