Hoffman E P, Hudecki M S, Rosenberg P A, Pollina C M, Kunkel L M
Division of Genetics, Children's Hospital, Boston, Massachusetts.
Neuron. 1988 Jul;1(5):411-20. doi: 10.1016/0896-6273(88)90191-2.
Duchenne muscular dystrophy is the result of dystrophin deficiency. We have determined the cell types likely to express the pathogenic effects of this neuromuscular disease by determining the pattern of dystrophin expression in normal cells. We find that all physiological types of muscle cells express dystrophin at similar levels, and that the dystrophin content of various tissues correlates with the myogenic cell population of each tissue. The dystrophin content of brain and spinal cord, however, is found not to correlate with any type of muscle cell, and it is suggested that neurons express dystrophin. The potential involvement of striated muscle fibers, the vasculature, and the nervous system in the etiology of Duchenne muscular dystrophy makes it likely that the disease is a complex disorder of combined pathogenesis. We also find that the dystrophic chicken does not represent an animal model for dystrophin deficiency.
杜氏肌营养不良症是由肌营养不良蛋白缺乏所致。我们通过确定正常细胞中肌营养不良蛋白的表达模式，来判定可能表达这种神经肌肉疾病致病效应的细胞类型。我们发现，所有生理类型的肌肉细胞均以相似水平表达肌营养不良蛋白，且各组织的肌营养不良蛋白含量与每个组织的成肌细胞群体相关。然而，发现脑和脊髓的肌营养不良蛋白含量与任何类型的肌肉细胞均无关联，提示神经元表达肌营养不良蛋白。横纹肌纤维、脉管系统和神经系统在杜氏肌营养不良症病因学中的潜在作用，使得该疾病很可能是一种发病机制复杂的复合型病症。我们还发现，患营养不良症的鸡并不代表肌营养不良蛋白缺乏的动物模型。
