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帕金森病最早临床阶段的潜在生物标志物。

Potential Biomarkers of the Earliest Clinical Stages of Parkinson's Disease.

作者信息

Alieva Anelya Kh, Filatova Elena V, Karabanov Aleksey V, Illarioshkin Sergey N, Slominsky Petr A, Shadrina Maria I

机构信息

Institute of Molecular Genetics, Russian Academy of Sciences, Moscow 123182, Russia.

Research Centre of Neurology, Moscow 125367, Russia.

出版信息

Parkinsons Dis. 2015;2015:294396. doi: 10.1155/2015/294396. Epub 2015 Sep 21.

Abstract

Parkinson's disease (PD) is a widespread neurodegenerative disorder. Despite the intensive studies of this pathology, in general, the picture of the etiopathogenesis has still not been clarified fully. To understand better the mechanisms underlying the pathogenesis of PD, we analyzed the expression of 10 genes in the peripheral blood of treated and untreated patients with PD. 35 untreated patients with PD and 12 treated patients with Parkinson's disease (Hoehn and Yahr scores 1-2) were studied. An analysis of the mRNA levels of ATP13A2, PARK2, PARK7, PINK1, LRRK2, SNCA, ALDH1A1, PDHB, PPARGC1A, and ZNF746 genes in the peripheral blood of patients was carried out using reverse transcription followed by real-time PCR. A statistically significant and specific increase by more than 1.5-fold in the expression of the ATP13A2, PARK7, and ZNF746 genes was observed in patients with PD. Based on these results, it can be suggested that the upregulation of the mRNA levels of ATP13A2, PARK7, and ZNF746 in untreated patients in the earliest clinical stages can also be observed in the preclinical stages of PD, and that these genes can be considered as potential biomarkers of the preclinical stage of PD.

摘要

帕金森病(PD)是一种广泛存在的神经退行性疾病。尽管对这种病理状况进行了深入研究,但总体而言,病因发病机制的全貌仍未完全阐明。为了更好地理解PD发病机制的潜在机制,我们分析了PD治疗患者和未治疗患者外周血中10个基因的表达情况。研究了35例未经治疗的PD患者和12例帕金森病治疗患者(霍恩和雅尔分级为1 - 2级)。采用逆转录随后进行实时PCR的方法,对患者外周血中ATP13A2、PARK2、PARK7、PINK1、LRRK2、SNCA、ALDH1A1、PDHB、PPARGC1A和ZNF746基因的mRNA水平进行了分析。在PD患者中观察到ATP13A2、PARK7和ZNF746基因的表达有统计学意义的特异性增加,超过1.5倍。基于这些结果,可以推测在PD临床前期阶段也可观察到最早临床阶段未治疗患者中ATP13A2、PARK7和ZNF746的mRNA水平上调,并且这些基因可被视为PD临床前期阶段的潜在生物标志物。

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