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谷胱甘肽S-转移酶M1基因无效多态性与具有强烈美洲印第安人遗传成分的智利人群帕金森病的关联。

Association of GST M1 null polymorphism with Parkinson's disease in a Chilean population with a strong Amerindian genetic component.

作者信息

Perez-Pastene Carolina, Graumann Rebecca, Díaz-Grez Fernando, Miranda Marcelo, Venegas Pablo, Godoy Osvaldo Trujillo, Layson Luis, Villagra Roque, Matamala Jose Manuel, Herrera Luisa, Segura-Aguilar Juan

机构信息

Molecular and Clinical Pharmacology, ICBM, Faculty of Medicine, University of Chile, Casilla 70000, Santiago-7, Chile.

出版信息

Neurosci Lett. 2007 May 17;418(2):181-5. doi: 10.1016/j.neulet.2007.03.024. Epub 2007 Mar 14.

DOI:10.1016/j.neulet.2007.03.024
PMID:17403576
Abstract

We have studied the association of a null mutation of Glutathione Transferase M1 (GST M10/0) with Parkinson's disease (MIM 168600) in a Chilean population with a strong Amerindian genetic component. We determined the genotype in 349 patients with idiopathic Parkinson's disease (174 female and 175 male; 66.84+/-10.7 years of age), and compared that to 611 controls (457 female and 254 male; 62+/-13.4 years of age). A significant association of the null mutation in GST M1 with Parkinson's disease was found (p=0.021), and the association was strongest in the earlier age range. An association of GSTM10/0 with Parkinson's disease supports the hypothesis that Glutathione Transferase M1 plays a role in protecting astrocytes against toxic dopamine oxidative metabolism, and most likely by preventing toxic one-electron reduction of aminochrome.

摘要

我们在一个具有强烈美洲印第安人遗传成分的智利人群中,研究了谷胱甘肽转移酶M1(GST M10/0)的无效突变与帕金森病(MIM 168600)之间的关联。我们确定了349例特发性帕金森病患者(174例女性和175例男性;年龄66.84±10.7岁)的基因型,并将其与611名对照者(457例女性和254例男性;年龄62±13.4岁)进行比较。发现GST M1中的无效突变与帕金森病存在显著关联(p = 0.021),且该关联在较早年龄范围内最为明显。GSTM10/0与帕金森病的关联支持了这样一种假说,即谷胱甘肽转移酶M1在保护星形胶质细胞免受有毒多巴胺氧化代谢影响方面发挥作用,很可能是通过防止氨基chrome的有毒单电子还原实现的。

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