早发性帕金森病的表观遗传学研究方法：SNCA和PARK2启动子区域的低甲基化状态
Epigenetic approach to early-onset Parkinson's disease: low methylation status of SNCA and PARK2 promoter regions.
作者信息
Eryilmaz Isil Ezgi, Cecener Gulsah, Erer Sevda, Egeli Unal, Tunca Berrin, Zarifoglu Mehmet, Elibol Bulent, Bora Tokcaer Ayse, Saka Esen, Demirkiran Meltem, Akbostanci Cenk, Dogu Okan, Colakoglu Beril, Kenangil Gulay, Kaleagasi Hakan
机构信息
a Faculty of Medicine, Department of Medical Biology , Uludag University , Bursa , Turkey.
b Faculty of Medicine, Department of Neurology , Uludag University , Bursa , Turkey.
出版信息
Neurol Res. 2017 Nov;39(11):965-972. doi: 10.1080/01616412.2017.1368141. Epub 2017 Aug 22.
Background and aim The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In the present study, we investigated methylation status of SNCA and PARK2 genes in patients with early-onset Parkinson's disease (EOPD). Materials and methods The promoter region methylation status of SNCA and PARK2 genes was evaluated by methylation specific-PCR (MSP) in 91 patients with EOPD and 52 healthy individuals. Results The methylation of SNCA and PARK2 promoter regions were significantly lower in EOPD patients compared to the control group (P = 0.013 and P = 0.03, respectively). We also found that the methylation status of the SNCA might be associated with positive family history of PD (P = 0.042). Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis.
背景与目的
与帕金森病（PD）相关基因的表观遗传修饰作用仍不明确。在本研究中，我们调查了早发性帕金森病（EOPD）患者中SNCA和PARK2基因的甲基化状态。材料与方法：采用甲基化特异性聚合酶链反应（MSP）评估91例EOPD患者和52例健康个体中SNCA和PARK2基因启动子区域的甲基化状态。结果：与对照组相比，EOPD患者中SNCA和PARK2启动子区域的甲基化水平显著降低（分别为P = 0.013和P = 0.03）。我们还发现，SNCA的甲基化状态可能与PD家族史阳性有关（P = 0.042）。结论：尽管本研究结果尚需进一步分析支持，但基于本研究结果，SNCA和PARK2基因的甲基化状态可能与EOPD的发病机制有关。
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