新疆地区汉族帕金森病伴认知障碍患者差异表达基因的研究  

Study on differential expression of genes associated with cognitive impairment in Chinese Han patients of Xinjiang area with Parkinson's disease

作　　者：罗琴[1] 夏欢[1] 杨新玲[1] 

机构地区：[1]新疆医科大学附属肿瘤医院干部病房科,乌鲁木齐830000

出　　处：《临床检验杂志》2014年第6期429-432,共4页Chinese Journal of Clinical Laboratory Science

基　　金：国家自然科学基金(81160143)

摘　　要：目的用基因表达谱芯片筛选新疆地区汉族帕金森病伴认知障碍(PD-CI)患者外周血的相关致病基因,分析其致病机制。方法用Illumina表达谱芯片筛查3例新疆地区汉族男性PD-CI患者与体检健康者的外周血标本,并用RT-PCR在35例PD-CI患者和47例体检健康者中验证可能与PD-CI机制有关的差异基因。结果与体检健康者相比,PD-CI患者外周血中差异表达2倍以上的基因共176个,其中68个上调、108个下调。KEGG Pathway分析显示,涉及胆碱能突触和多巴胺的信号通路的改变有统计学意义(P=0.046,P=0.005)。35例PD-CI患者和47例体检健康者相比,其ATP结合盒转运子A1(ABCA1)基因表达明显下降(Z=-2.742,P=0.006)。结论胆碱能突触异常可能与PD-CI的发生有关;ABCA1基因可能是新疆地区汉族PD-CI发生的潜在标志物。Objective To determine the differential expression of genes associated with cognitive impairment（CI） in Chinese Han patients of Xinjiang area with Parkinson＇s disease（PD） and explore the pathogenesis of Parkinson＇s disease associated with cognitive impairment（PD-CI）. Methods The peripheral blood samples of 3 Chinese Han patients with PD-CI and 3 healthy controls in Xinjiang area were screened by Illumina Microarray. The RT-PCR was used to confirm the differential genes that may associate with PD-CI in 35 PD-CI patients and 47 controls. Results Compared with the healthy controls, 176 genes whose expressions changed more than 2-fold were found as the candidates of differentially expressed genes in the PD-CI patients. Among them, 68 genes were over-expressed and 108 genes were down-expressed. The results of KEGG pathway showed that the changes of dopaminergic and cholinergic synaptic signa- ling pathways in the PD-CI group were significantly different from those in control group （ P = 0. 046, P = 0. 005 ）. RT-PCR revealed that the gene expression of ATP-binding cassette transporter A1 （ ABCA1 ） was significantly down-regulated in the 35 PD-CI patients compared with the 47 subjects of control group （ Z = - 2. 742, P = 0.006）. Conclusion The pathogenic mechanism of PD-CI should associate with the metabolic abnormalities of cholinergic synapsis. ABCA1 gene may be a potential biomarker of PD-CI in Chinese Han patients of Xinjiang area.

关 键 词：帕金森病 认知障碍 基因芯片 ATP结合盒转运子A1 

分 类 号：R742.5[医药卫生—神经病学与精神病学]