假肥大肌营养不良症患儿腓肠肌组织中抗肌萎缩蛋白相关蛋白mRNA表达的检测*
Detection of mRNA expression of Utrophin in gastrocnemius muscle tissue of patients with pseudohypertrophy muscular dystrophy

目的:探讨抗肌萎缩蛋白相关蛋白(Utrophin)在Duchenne型肌营养不良症(DMD)与Becker型肌营养不良症(BMD)患儿腓肠肌组织中的表达水平及临床意义。方法:采用实时荧光定量PCR方法检测肌营养不良症组(n=31)[包括DMD组(n=24)与BMD组(n=7),DMD组又分为DMD1组(n=6)、DMD2组(n=12)、DMD3组(n=6)]与对照组(n=21)腓肠肌组织中抗肌萎缩蛋白相关蛋白(Utrophin)及抗肌萎缩蛋白(Dystrophin)mRNA的表达水平,分析肌营养不良症患儿腓肠肌组织中Utrophin mRNA表达水平与Hammersmith功能运动评分(HFMS)之间的相关性。结果:与对照组比较,肌营养不良症组腓肠肌组织中Utrophin mRNA的表达水平升高(P=0.002)。与BMD组比较,DMD组Utrophin mRNA的表达上调(P=0.003)。与DMD1组比较,Utrophin mRNA在DMD2组与DMD3组的表达水平上调,其中以DMD3组上调最为显著(P＜0.05)。肌营养不良症患儿Utrophin mRNA的表达水平与HFMS呈正相关(rS=0.671,P=0.003)。结论:Utrophin在肌营养不良症患儿腓肠肌组织中表达上调, Utrophin可能替代成熟骨骼肌纤维中Dystrophin的部分功能,在阻遏DMD进展过程中起着重要作用。
Aim: To investigate the expression level of Utrophin in the gastrocnemius muscle tissue of patients with Duchenne and Becker muscular dystrophy(DMD and BMD).Methods: A total of 24 patients with DMD(DMD group)and 7 patients with BMD(BMD group)were chosen, and 21 healthy male children were chosen as control. The DMD group was further allocated into DMD1 group(n=6), DMD2 group(n=12), and DMD3 group(n=6). The expression levels of Utrophin and Dystrophin mRNA in the above groups were detected by real-time quantitative PCR. The relationship between Utrophin mRNA and Hammersmith functional motor score(HFMS)of the patients with muscular dystrophy was analyzed.Results: Compared with the control group, Utrophin mRNA significantly over-expressed in the muscular dystrophy group(P=0.002). The expression level of Utrophin mRNA in the gastrocnemius muscle in the DMD group was significantly higher compared with BMD group(P=0.003); compared with BMD1 group,the expression level of Utrophin mRNA in BMD2 group and BMD3 group was significantly higher,especially in DMD3 group(P＜0.05). There was a positive correlation between Utrophin mRNA expression and HFMS in patients with DMD or BMD(rS=0.671,P=0.003).Conclusion: Utrophin expression level in gastrocnemius muscle tissue from the patients with muscular dystrophy rises. Utrophin could replace part of Dystrophin function in the mature skeletal muscle, which may play a role in delaying the progression of muscle weakness