Objective Moyamoya disease (MMD) is a cerebiovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches. However, the etiology of this rare disease remains widely unknown. Serum microRNA profiles have been screened to identify novel biomarkers for disease diagnosis and prognosis. The aim here is to identify important serum microRNAs that might play important roles in contributing to MMD pathogenesis. Methods microRNA microarray was performed to test the microRNA profiles and microRNAs was selected to be validated by real-time polymerase chain (RT-PCR). The microRNAs involved in MMD pathogenesis were analyzed by gene ontology. Results microRNA array revealed 50 up-regulated and 44 down-regulated microRNAs in serum from MMD patients, which were confirmed by real-time PCR assay. Gene ontology (GO) analysis of biological process showed that these differentially expressed serum microRNAs were enriched in metabolic process. Conclusion This study identifies the serum microRNA signature in MMD. And protein expression of ring finger protein 213 (RNF213) or breast cancer susceptibility gene complex subunit protein 3 (BRCC3) are analyzed at the posttranscriptional level, respectively, which have been reported to lead to defective angiogenesis, thereby contributing to MMD pathogenesis.%目的 烟雾病发病机理尚有诸多未知,烟雾病血清微小RNA(microRNA,miRNA)表达谱可能会为该疾病诊断和预后判断提供新的生物学标记物.本研究拟寻找在烟雾病发病机制中扮演重要角色的血清miRNAs.方法 10例烟雾病患者和10例正常对照血清使用基因芯片筛选差异表达的miRNAs.通过实时聚合酶链反应(RT-PCR)进行结果验证.通过基因本体论(GO)分析诠释关键信号通路和参与烟雾病发病机制的相关miRNAs.结果 基因组miRNA序列显示烟雾病患者血清中94个miRNAs差异表达,其中上调50个,下调44个.RT-PCR验证了miRNA106b,miRNA130a和miRNA126显著上调,而miRNA125a-3p则显著下调.通过目标预测软件检测并定义潜在功能目标后鉴定了1989个潜在功能目标.GO分析表明差异表达的miRNAs在代谢过程、转录和信号转导中富集.结论 本研究通过基因芯片检测烟雾病miRNA标志物并揭示环指蛋白213 (RNF213)和乳腺癌易感基因复合物3(BRCC3)的蛋白表达在烟雾病发病机制中可能发生的作用.
展开▼
