肌无力患者75例肌肉组织中myostatin基因mRNA表达情况筛查

Expression of myostatin gene mRNA in the muscle tissue from 75 patients with muscular weakness

目的 探讨肌抑素myostatin基因mRNA在肌无力患者肌肉组织中的表达情况.方法 2006年3月1日至6月30日于解放军总医院神经内科接受开放性骨骼肌活体组织检查病例共75例,经过肌电图、血清肌酸激酶活性及组织病理学检查确诊,排除神经肌肉疾病者9例,多发性肌炎21例,进行性肌营养不良15例,神经源性肌萎缩5例,慢性肌纤维损害4例,线粒体肌病4例,脂质贮积症4例,强直性肌营养不良4例,成人肌营养不良3例,皮肌炎2例,包涵体肌炎2例,单纯肌酶活性增高2例.采用逆转录-聚合酶链反应法分析患者肌肉组织中myostatin基因mRNA表达情况,以甘油醛-3-磷酸脱氢酶为内参照.结果 63例患者有myostatin基因mRNA表达,未检测到的患者有12例,阳性率84％.其表达指数变异大（0 ～3.52）.有表达者的表达指数与病程正相关（r=0.236,P=0.041）,与肌酸激酶活性及年龄无相关.Myostatin基因mRNA有表达患者的血清肌酸激酶活性高于表达阴性者但差异未达到有统计学意义.结论 萎缩性肌病患者中肌抑素myostatin基因mRNA的表达变异较大,与疾病性质可能无明显相关性.

Objective To investigate myostatin gene mRNA expression in the muscle tissue from patients with muscle weakness suffering from different illness.Methods The clinical data of our patients were all from the Muscular Disease Center,Department of Neurology,People＇ s Liberation Army General Hospital.A total of 75 patients suffered from muscular weakness were included consecutively.Skeletal muscle biopsies were obtained with informed consent from all 75 patients.The diagnosis was confirmed by two senior doctors for muscular disease according to the clinical feature,the results of electromyography,serum creatine kinase activity and histopathological examination.Among of them,21 cases were diagnosed as polymyositis,15 cases progressive muscular dystrophy,5 cases neurogenic amyotrophy,4 cases chronic muscle fiber damage,4 cases mitochondrial myopathy,4 cases lipid storage myopathy,4 cases myotonic dystrophy,3 cases muscular dystrophy in adults,2 cases dermatomyositis,and 2 cases inclusion body myositis.There were 2 cases characterized by pure high activity of creatine kinase.And the other 9 cases were diagnosed as non-neuromuscular disease.The expression of myostatin gene mRNA in muscle tissue was evaluated by reverse transcription polymerase chain reaction method,with glyceraldehyde-3-phosphate dehydrogenase as internal reference.Results The expression of myostatin gene mRNA was detected in 63 patients,but not in other 12 cases,and the percentage of positive expression was 84％.The expression index was with great variation,from 0 to 3.52.In positive cohort,the index was correlated positively with the duration of disease （r =0.236,P =0.041）.The activities of creatine kinase in positive expression cohort were higher than that of negative one,but nonsignificantly.Conclusion The expression of myostatin gene mRNA in muscle tissue may not correlate to the entity of atrophic muscular disease because of its great variation.