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目的探究肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者心肌组织基因表达异常与临床表型的关系。方法微矩阵分析比较正常人与HCM心肌组织的m RNA表达谱,寻找差异表达基因。实时荧光定量聚合酶链式反应和蛋白免疫印迹验证表达差异。SPSS22.0统计基因表达水平与患者临床表型间的的相关性。结果通过微矩阵比较6例HCM患者和5例正常对照心肌的m RNA表达谱,发现成纤维细胞生长因子12(FGF-12)表达显著降低。用实时荧光定量聚合酶链式反应在39例患者和8例对照中进行进一步检测,发现患者心肌组织中FGF-12的m RNA水平降低了66%(P<0.05)。患者心肌组织中FGF-12蛋白水平也相应减少。同时,FGF-12的m RNA表达水平与术前是否合并束支传导阻滞显著相关(P<0.05)。结论 FGF-12在HCM患者心肌组织中显著下调,提示可能参与了心肌功能调节和HCM病理进程。
Objective To investigate the relationship between abnormal gene expression in myocardium and clinical phenotype in patients with hypertrophic cardiomyopathy (HCM). Methods Microarray analysis was used to compare m RNA expression profiles in normal and HCM myocardium to find differentially expressed genes. Real-time fluorescence quantitative polymerase chain reaction and Western blotting to verify differences in expression. Correlation between SPSS22.0 statistical gene expression level and clinical phenotype of patients. Results The m RNA expression profiles of 6 HCM patients and 5 normal control myocardium were compared by micro-matrix. The expression of FGF-12 was significantly decreased. Further testing in 39 patients and 8 controls using real-time quantitative polymerase chain reaction revealed a 66% (P <0.05) decrease in m RNA levels of FGF-12 in the myocardium. Patients with myocardial tissue FGF-12 protein levels are also reduced. Meanwhile, the m RNA expression level of FGF-12 was significantly correlated with preoperative bundle branch block (P <0.05). Conclusions FGF-12 is significantly down-regulated in myocardium of patients with HCM, suggesting that it may be involved in the regulation of cardiac function and the pathology of HCM.