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目的探讨 utrophin 和 dystrophin 蛋白在神经肌肉病患者肌肉中的表达及其相关性。方法采用免疫荧光方法观察26例共8种神经肌肉疾病患者及2名无神经肌肉疾病者的正常肌肉活检标本冰冻切片 utrophin 和 dystrophin 蛋白的表达。结果 dystrophin 蛋白在 Duchenne 型肌营养不良(DMD)患者显示为大部分肌纤维荧光圈带缺失、荧光圈带亮度减弱或荧光圈带呈不连续状;在非DMD 的肌营养不良、脂肪累积性肌病、强直性肌营养不良、神经源性肌萎缩、多发性肌炎、线粒体脑肌病、肌源性肌萎缩患者肌肉膜上呈现一圈完整的强荧光圈带;在对照组肌肉膜上呈现一圈完整的强荧光圈带。utrophin 蛋白在 dystrophin 蛋白重度减少的 DMD 患者少部分肌纤维肌膜上呈现不连续的荧光圈带,但强度较弱;在 dystrophin 蛋白中度减少的 DMD 患者、非 DMD 的肌营养不良及其他6种神经肌肉病患者肌肉膜上不显示荧光;在对照组肌肉膜上不显示荧光。结论 DMD 患者肌肉的dystrophin 蛋白表达重度减少的同时,出现 utrophin 蛋白的表达;而包括 DMD 患者 dystrophin 蛋白中度减少、非 DMD 的肌营养不良在内的其他神经肌肉病患者肌肉的 dystrophin 蛋白正常表达时,其utrophin 未出现表达。
Objective To investigate the expression and correlation of utrophin and dystrophin in muscle of patients with neuromuscular diseases. Methods Immunofluorescence was used to detect the expression of utrophin and dystrophin in frozen muscle biopsies from 26 patients with neuromuscular diseases and 2 patients without neuromuscular diseases. Results The dystrophin protein was found in most patients with Duchenne muscular dystrophy (DMD), the majority of myofibrillar fluorescence bands were missing, the intensity of the fluorescent ring zone was weakened, or the fluorescent ring zone was discontinuous. In the non-DMD muscular dystrophy and fat accumulation myopathy , Myotonic dystrophy, neurogenic muscular atrophy, polymyositis, mitochondrial encephalomyopathy, muscular atrophy muscle showed a complete circle of strong fluorescence in the muscle membrane in the control group showed a Full circle of strong fluorescent band. Utrophin protein showed discontinuous bands of fluorescence on a few myofibers in DMD patients with diminished dystrophin protein, but with weaker intensity. In DMD patients with moderate dystrophin protein loss, non-DMD muscular dystrophy and other 6 nerves Muscle patients showed no fluorescence on the muscle membrane; no fluorescence was observed on the muscle membrane of the control group. Conclusion The expression of utrophin protein in muscles of patients with DMD is significantly decreased while the expression of utrophin protein in muscle of patients with DMD is moderate, while dystrophin protein in muscles of other neuromuscular diseases including DM dystrophin protein is moderately reduced , Utrophin did not appear to express.