Saadat Selva Moheb, Değirmenci İrfan, Özkan Serhat, Saydam Faruk, Özdemir Köroğlu Zeynep, Çolak Ertuğrul, Güneş Hasan Veysi
Department of Medical Biology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Neurosci Lett. 2015 May 6;594:51-4. doi: 10.1016/j.neulet.2015.03.054. Epub 2015 Mar 26.
Parkinson's disease (PD) is a late-onset neurodegenerative disorder with both familial and sporadic presentation. The main pathological characteristic of PD is the death of dopaminergic neurons in the substantia nigra (SN) pars compacta. PD is the second most common neurodegenerative disease worldwide, after Alzheimer's disease. Recent studies have suggested increased levels of iron and iron-binding proteins in the brains of patients with PD. Divalent metal transporter 1 (DMT1) is one protein responsible for iron transport. Postmortem studies have shown an important increase in DMT1 levels in the SN of patients with PD. Our aim is to determine whether there is an association between DMT1 polymorphisms and PD. We analyzed two single nucleotide polymorphisms (1254T>C and IVS4+44C>A) in the DMT1 gene in patients with 97 Parkinson's disease and in 100 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No association was found between the IVS4+44C>A polymorphism and PD, but the TT genotype and T allele of the 1254T>C polymorphism in the DMT1 gene were associated with PD (P=0.002 and P=0.012, respectively). In contrast to a previous study, our results suggest that the TT genotype and T allele of the 1254T>C polymorphism may be a risk factor for PD.
帕金森病（PD）是一种迟发性神经退行性疾病，有家族性和散发性两种表现形式。PD的主要病理特征是黑质致密部多巴胺能神经元的死亡。PD是全球第二常见的神经退行性疾病，仅次于阿尔茨海默病。最近的研究表明，PD患者大脑中铁和铁结合蛋白的水平有所升高。二价金属转运蛋白1（DMT1）是负责铁转运的一种蛋白质。尸检研究显示，PD患者黑质中DMT1水平显著升高。我们的目的是确定DMT1基因多态性与PD之间是否存在关联。我们使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析了97例帕金森病患者和100例健康对照者DMT1基因中的两个单核苷酸多态性（1254T>C和IVS4+44C>A）。未发现IVS4+44C>A多态性与PD之间存在关联，但DMT1基因中1254T>C多态性的TT基因型和T等位基因与PD相关（P分别为0.002和0.012）。与之前的一项研究不同，我们的结果表明，1254T>C多态性的TT基因型和T等位基因可能是PD的一个危险因素。
