Grozdanovic Z, Christova T, Gosztonyi G, Mellerowicz H, Blottner D, Gossrau R
Department of Anatomy, University Clinic Benjamin Franklin, Berlin, Germany.
Histochem J. 1997 Feb;29(2):97-104. doi: 10.1023/a:1026425120156.
Recently, it has been shown that in human striated muscle the signalling enzyme, brain-type nitric oxide synthase I (NOS I), is associated with the sarcolemma and complexes with dystrophin and/or members of the dystrophin complex. In order to find out whether there exists a regular association between NOS I and the complex, muscle biopsies from patients with various muscle disorders were analysed by enzyme histochemistry and immunohistochemistry. In patients suffering from Duchenne muscular dystrophy, and to a lesser extent in those with Becker-type dystrophy, NOS I and dystrophin complex components were absent or drastically reduced in the sarcolemma region. In other dystrophies, as well as in metabolic and inflammatory myopathies, NOS I and dystrophin complex constituents were expressed normally, while in the case of neurogenic diseases leading to denervation atrophy and especially congenital idiopathic clubfoot, the immunohistochemical patterns of the distribution of the dystrophin complex constituents were normal, but NOS I activity and protein were deficient or dramatically diminished. The results can be interpreted as indicating that, in general, NOS I targeting to the sarcolemma is dependent on particular members of the dystrophin complex, such as alpha-1 syntrophin, yet the expression and/or positioning of NOS I may be under the control of further factors, probably of neurogenic origin. NOS I-associated diaphorase may thus be a useful complementary tool in the diagnosis of muscle disorders.
最近研究表明，在人类横纹肌中，信号酶脑型一氧化氮合酶I（NOS I）与肌膜相关，并与肌营养不良蛋白和/或肌营养不良蛋白复合体的成员形成复合物。为了确定NOS I与该复合体之间是否存在固定联系，对患有各种肌肉疾病患者的肌肉活检组织进行了酶组织化学和免疫组织化学分析。在杜兴氏肌营养不良症患者中，以及在程度较轻的贝克型肌营养不良症患者中，肌膜区域的NOS I和肌营养不良蛋白复合体成分缺失或大幅减少。在其他肌营养不良症以及代谢性和炎性肌病中，NOS I和肌营养不良蛋白复合体成分正常表达，而在导致去神经萎缩的神经源性疾病尤其是先天性特发性马蹄内翻足的情况下，肌营养不良蛋白复合体成分的免疫组织化学分布模式正常，但NOS I活性和蛋白缺乏或显著减少。这些结果可以解释为，一般来说，靶向至肌膜的NOS I依赖于肌营养不良蛋白复合体的特定成员，如α-1肌养蛋白，然而NOS I的表达和/或定位可能受其他因素控制，可能源自神经源性。因此，NOS I相关的黄递酶可能是诊断肌肉疾病的一种有用的辅助工具。
