中文摘要：

目的分析早发家族性阿尔茨海默病（early—onset familial Alzheimer’Sdisease，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。

英文摘要：

Objective To determine the expression profile of serum microRNAs （miRNAs） in early- onset familial Alzheimer＇ s disease （EO-FAD） patients. Methods miRNA mieroarrays 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. Results It was found that 21 miRNAs were up-regulated and 22 miRNAs were down-regulated in serum of EO-FAD patients,the differ- ences 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-Sp （P = 0.0106 ） and miR- 155-5p （P= 0.0240） were markedly down-regulated. Kyoto Encyclopedia of Genes and Ge- nomes（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-Sp and miR-155-Sp may be used as potential biomarkers of EO-FAD, and involved in the mechanism of EO-FAD by affecting neurotrophin signaling pathway.