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首页> 外文期刊>Life sciences >Differential display reveals downregulation of the phospholipid transfer protein (PLTP) at the mRNA level in brains of patients with Down syndrome.
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Differential display reveals downregulation of the phospholipid transfer protein (PLTP) at the mRNA level in brains of patients with Down syndrome.

机译：差异显示揭示了唐氏综合症患者大脑中磷脂转移蛋白（PLTP）在mRNA水平上的下调。

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摘要

The phospholipid transfer protein (PLTP) shows a wide variety of functions including transfer of phospholipids and other lipid-like substances. Performing gene hunting in brain of patients with Down syndrome (DS) we detected the absence of a fragment identified as PLTP. Cerebellum of 4 controls, 7 patients with DS, 5 patients with Alzheimer's disease (AD) were used for differential display and for quantification of mRNA steady state levels of the isomer PLTP-1 by blotting methods. Differential display showed the absence of a cDNA fragment and cloning, sequencing and gene bank work revealed 100% homology with human PAC 337018 on chromosome 20q containing the PLTP gene. The PLTP gene in turn consists of at least three different PLTP-isomers. Based on these results, a 450 bp cDNA fragment of the PLTP-isomer I (PLTP I) was isolated and amplified by PCR, serving as probe for the PLTP-1 isomer and its expression level was found to be significantly reduced in cerebellum of patients with DS. Biologically, the downregulation of PLTP maybe involved in the pathology of DS as phospholipids not only are of importance for membrane biogenesis and structure but also in the regulation of cellular metabolism, signaling and growth. In the brain, phospholipids in addition are integral constituents of myelins and synaptosomes (Johnson etc) and deficient PLTP levels may account for the deteriorated functions described to occur in DS brain.
机译：磷脂转移蛋白（PLTP）具有多种功能，包括磷脂和其他脂质样物质的转移。在唐氏综合症（DS）患者的大脑中进行基因狩猎，我们检测到缺少鉴定为PLTP的片段。使用4个对照，7个DS患者，5个阿尔茨海默氏病（AD）患者的小脑进行差异展示，并通过印迹方法定量测定异构体PLTP-1的mRNA稳态水平。差异显示显示缺少cDNA片段，克隆，测序和基因库工作表明与包含PLTP基因的20q染色体上的人PAC 337018具有100％的同源性。 PLTP基因又由至少三种不同的PLTP异构体组成。根据这些结果，分离并通过PCR扩增了PLTP-I异构体I（PLTP I）的450bp cDNA片段，作为PLTP-1异构体的探针，发现其表达水平在患者小脑中显着降低。使用DS。从生物学上讲，PLTP的下调可能与DS的病理有关，因为磷脂不仅对膜的生物发生和结构很重要，而且在细胞代谢，信号传导和生长的调节中也很重要。在大脑中，磷脂是髓鞘和突触小体（Johnson等）的组成部分，PLTP不足可能是DS脑中所描述的功能下降的原因。

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