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

发布时间：2018-11-04 19:06

【摘要】：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(P0.05)。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。
[Abstract]:Objective: to investigate the expression and clinical significance of dystrophin related protein (Utrophin) (Utrophin) in gastrocnemius muscle of children with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Methods: real time fluorescence quantitative PCR was used to detect muscular dystrophy (nnm31) [including DMD group (nnt24) and BMD group (nong7), DMD group), which were divided into DMD1 group (nong6) and DMD2 group (nong12), respectively. The expression levels of dystrophin associated protein (Utrophin) and anti muscular dystrophy protein (Dystrophin) mRNA) in gastrocnemius muscle of DMD3 group and control group were analyzed. To analyze the correlation between the expression of Utrophin mRNA in gastrocnemius and Hammersmith functional motor score (HFMS) in children with muscular dystrophy. Results: compared with the control group, the expression of Utrophin mRNA in gastrocnemius was higher in muscular dystrophy (P0. 002). Compared with BMD group, Utrophin mRNA expression in DMD group was up-regulated (P0. 003). Compared with DMD1 group, the expression of, Utrophin mRNA was up-regulated in DMD2 group and DMD3 group, especially in DMD3 group (P0.05). The expression of Utrophin mRNA was positively correlated with HFMS (rS=0.671,P=0.003) in children with muscular dystrophy. Conclusion: the expression of Utrophin is up-regulated in gastrocnemius muscle of children with muscular dystrophy. Utrophin may replace the function of Dystrophin in mature skeletal muscle fibers and play an important role in inhibiting the progression of DMD.
【作者单位】：郑州大学第五附属医院神经内科;
【基金】：河南省科技厅重点资助项目132102310092
【分类号】：R746.2

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