Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Eur J Neurol. 2012 Jun;19(6):870-5. doi: 10.1111/j.1468-1331.2011.03644.x. Epub 2012 Feb 6.
The preferential degeneration of midbrain dopaminergic (mDA) neurons in the substantia nigra pars compacta is the pathological hallmark in Parkinson's disease (PD). The transcription factors NURR1 and PITX3 have been shown to play a crucial role in the maturation and survival of mDA neurons, and both of them were potential susceptibility genes for PD.
To determine whether NURR1 and PITX3 gene expression are altered in Chinese patients with PD, we measured their gene expression in human peripheral blood lymphocytes (PBL) in 255 patients with PD and 211 age- and gender-matched healthy controls by quantitative real-time PCR technique.
We found that both NURR1 and PITX3 gene expression in PBL were significantly decreased in patients with PD as compared with controls (P < 0.0001). Lower levels of NURR1 and PITX3 gene expression were significantly associated with the increased risk for PD in male and older subjects, respectively.
Our results provide useful information that the NURR1 and PITX3 gene expression is decreased in the PBL of Chinese patients with PD, indicating their possible systemic involvement in PD.
中脑黑质致密部多巴胺能（mDA）神经元的优先退化是帕金森病（PD）的病理标志。转录因子 NURR1 和 PITX3 已被证明在 mDA 神经元的成熟和存活中发挥着关键作用，并且它们都是 PD 的潜在易感基因。
为了确定 NURR1 和 PITX3 基因表达是否在中国人 PD 患者中发生改变，我们通过定量实时 PCR 技术测量了 255 名 PD 患者和 211 名年龄和性别匹配的健康对照者的人外周血淋巴细胞（PBL）中的基因表达。
我们发现，与对照组相比，PD 患者的 PBL 中 NURR1 和 PITX3 基因表达均显著降低（P < 0.0001）。较低水平的 NURR1 和 PITX3 基因表达与男性和年龄较大的患者 PD 风险增加显著相关。
我们的研究结果提供了有用的信息，即 NURR1 和 PITX3 基因在中国人 PD 患者的 PBL 中表达降低，表明它们可能在 PD 中存在全身性参与。
