[1]崔 明,刘恒方,张 敏,等.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*[J].郑州大学学报(医学版),2017,(04):460-462.[doi:10.13705/j.issn.1671-6825.2017.04.021]
 CUI Ming,LIU Hengfang,ZHANG Min,et al.Detection of mRNA expression of Utrophin in gastrocnemius muscle tissue of patients with pseudohypertrophy muscular dystrophy[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2017,(04):460-462.[doi:10.13705/j.issn.1671-6825.2017.04.021]
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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*()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2017年04期
页码:
460-462
栏目:
应用研究
出版日期:
2017-07-15

文章信息/Info

Title:
Detection of mRNA expression of Utrophin in gastrocnemius muscle tissue of patients with pseudohypertrophy muscular dystrophy
作者:
崔 明刘恒方张 敏宋长栋王建平#
郑州大学第五附属医院神经内科 郑州 450052
Author(s):
CUI Ming LIU Hengfang ZHANG Min SONG Changdong WANG Jianping
Department of Neurology, the Fifth Affiliated Hospital, Zhengzhou University, Zhengzhou 450052
关键词:
肌营养不良症 腓肠肌 抗肌萎缩蛋白相关蛋白 肌无力
Keywords:
muscular dystrophy gastrocnemius muscle Utrophin myasthenia
分类号:
R746.3
DOI:
10.13705/j.issn.1671-6825.2017.04.021
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(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。
Abstract:
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.

参考文献/References:

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备注/Memo

备注/Memo:
*河南省科技厅重点资助项目 132102310092
#通信作者,男,1956年12月生,本科,教授,研究方向:神经遗传病,E-mail:wjpwfy666@126.com
更新日期/Last Update: 2017-07-20