中文摘要：

目的 筛选并分析烟雾病microRNA（miRNA）表达谱，探讨其可能的发病机制。方法采用基因芯片检测10例烟雾病患者和10例正常对照血清，获得miRNA差异表达谱，用RT-PCR进行结果验证。通过目标预测程序TargetScan进行预测并得到差异表达的miRNAs。进一步通过基因本体论（GO）分析与通路分析诠释关键信号通路和可能参与烟雾病发病机制的miRNAs。结果根据基因芯片结果，发现有94个差异表达的miRNAs，其中上调50个，下调44个，若干个重要的miRNA家族亦同时被检测到。RT—PCR验证了miRNA-106b、miRNA-130a、miRNA-126、miRNA-125a-3p的差异表达，证明基因芯片筛查可靠。通路分析表明富集程度最高的是mTOR信号通路，具有16个潜在功能靶点。结论利用基因芯片初步筛选出烟雾病患者血清miRNA表达谱；生物信息学分析提示mTOR信号通路可能与烟雾病发病相关。

英文摘要：

Objective To screen and analyze the serum microRNA （miRNA） profile of moyamoya disease （MMD）, so as to elucidate the possible pathogenesis of the disease. Methods MiRNA microarray was used to test the serum of 10 MMD patients and 10 healthy controls to identify the miRNA profile. Some angiogenesis-associated miRNAs were validated by RT- PCR. TargetScan software was used for prediction and the differential miRNAs were obtained. Furthermore, the key signal pathways and miRNAs involved in MMD pathogenesis were analyzed by gene ontology and pathway analysis. Results A genome-wide miRNA array revealed 50 up-regulated and 44 down-regulated miRNAs in the sera of MMD patients~ several important miRNA families and clusters were detected. RT-PCR assay confirmed that miRNA-106b, miRNA-130a and miRNA-126 were significantly up-regulated and miRNA-125a-3p was significantly down-regulated in the serum of MMD patients, suggesting the high reliability of miRNA array. Pathway analysis showed that the most enriched pathway was mTOR signaling pathway, with 16 potential functional targets. Conclusion We have identified the serum miRNA signature in MMD patients, and further analysis indicates that mTOR pathway-associated miRNAs might play an important role in MMD pathogenesis.