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目的 分析早发家族性阿尔茨海默病(early-onset familial Alzheimer’s disease,EO-FAD)患者血清特异性微小RNA(microRNA,miRNA)表达谱,为深入研究miRNA与EO-FAD发生发展的关系以及寻找EO-FAD分子标记物奠定基础.方法 利用miRNA芯片就2例EO-FAD家系患者、2例EO-FAD家系携带者和2例正常对照者血清miRNA进行检测和初步信息学分析.结果 miRNA芯片检测发现,与正常对照相比,EO-FAD患者血清中上调的miRNAs有21个,下调的有22条均差异有统计学意义(P<0.05);其中miR-5704(P=0.0002)、miR-4639-3p(P=0.0195)和miR-107(P=0.0204)表达水平显著上调,miR-5572(P=0.0008)、miR-204-3p(P=0.0014)、miR-542-5p(P=0.0106)和miR-155-5p(P=0.0240)表达水平显著下调.KEGG生物通路分析表明表达水平上调或下调的miRNAs的靶基因可能通过影响参与EO-FAD的发病机制.结论 miR-5704、miR-4639-3p、miR-107、miR-5572、miR-204-3p 、miR-542-5p、miR-155-5p有可能成为EO-FAD的潜在分子标记物,并通过影响神经营养因子信号通路参与EO-FAD的发病机制.“,”Objective To determine the expression profile of serum microRNAs(miRNAs) in early-onset familial Alzheimer’s disease (EO-FAD) patients. methods miRNA microarrays were performed to detect the expression profile of serum miRNAs in 2 cases of EO-FAD patients,2 cases of EO-FAD carriers and 2 cases of normal controls.Preliminary bioinformatic analysis was conducted. Result sIt was found that 21 miRNAs were up-regulated and 22 miRNAs were down-regulated in serum of EO-FAD patients,the differences were statistically significant(P<0.05).miR-5704(P=0.0002),miR-4639-3p(P=0.0195),miR-107(P=0.0204) were markedly up-regulated,miR-5572(P=0.0008),miR-204-3p(P=0.0014),miR-542-5p(P=0.0106) and miR-155-5p(P=0.0240) were markedly down-regulated.Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis suggested that the dysregulated miRNAs may be involved in the mechanism of EO-FAD by affecting neurotrophin signaling pathway.Conclusion miR-5704,miR-4639-3p,miR-107,miR-5572,miR-204-3p,miR-542-5p and miR-155-5p may be used as potential biomarkers of EO-FAD,and involved in the mechanism of EO-FAD by affecting neurotrophin signaling pathway.