Abstract

Parkinson’s disease (PD) is one of the most common neurodegenerative pathologies. This disorder is associated with death of predominantly dopaminergic neurons. A characteristic feature of PD is a long latent period of disease development, which makes it impossible to investigate and diagnose PD at the earliest clinical stages. One of the approaches to solving this problem is the examination of the peripheral blood of untreated PD patients at the early clinical stages. Changes in relative mRNA levels of genes in peripheral blood can be considered as potential biomarkers at the early stages of PD. In this study, we analyzed changes in relative mRNA levels of genes CLN3, GABBR1, and WFS1 in peripheral blood in treated and untreated PD patients and in comparison groups using RT-qPCR with TaqMan probes. All the known functions of the proteins of the studied genes, as well as the identified associations of these genes with various neurological diseases, may indicate their possible involvement in PD pathogenesis. However, no statistically significant changes in mRNA levels in PD patients relative to the control were shown for any gene. No significant changes in relative mRNA levels in the neurological control group were shown either. So, the data presented in this paper suggest that genes CLN3, GABBR1, and WFS1 do not contribute to the pathogenesis of the disease, at least at the mRNA level, at the early symptomatic stages in patients with PD and, therefore, cannot be considered as biomarkers of the early stages of PD.

中文翻译：

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帕金森氏病患者CLN3，GABBR1和WFS1基因的表达分析

摘要

帕金森氏病（PD）是最常见的神经退行性病变之一。这种疾病与多巴胺能神经元的死亡有关。PD的特征是疾病发展的潜伏期长，这使得不可能在早期临床阶段就对PD进行调查和诊断。解决此问题的方法之一是在临床早期检查未经治疗的PD患者的外周血。外周血中基因相对mRNA水平的变化可以被认为是PD早期的潜在生物标志物。在这项研究中，我们分析了CLN3，GABBR1和WFS1基因相对mRNA水平的变化使用RT-qPCR和TaqMan探针在治疗和未治疗的PD患者以及对照组中的外周血中进行检测。研究基因的蛋白质的所有已知功能，以及这些基因与各种神经系统疾病的确定关联，可能表明它们可能参与了PD发病机制。然而，对于任何基因，相对于对照，没有显示PD患者中mRNA水平的统计学显着变化。在神经系统对照组中，相对mRNA水平也没有显着变化。因此，本文提供的数据表明基因CLN3，GABBR1和WFS1 在帕金森病患者的症状早期阶段，至少在mRNA水平上没有参与疾病的发病机理，因此不能被视为帕金森病早期的生物标志物。