多巴胺受体和转运体基因多态性与帕金森病。

S Higuchi, T Muramatsu, H Arai, M Hayashida, H Sasaki, J Q Trojanowski
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引用次数: 48

摘要

多巴胺系统的紊乱参与了特发性帕金森病(PD)的发病机制。虽然遗传因素可能在帕金森病的病因中起作用,但很少有直接证据表明有特定的基因。我们进行了一项研究,以验证多巴胺受体(D2, D3, D4)和多巴胺转运体(DAT)的等位基因变异对PD易感性的影响。对70名日本PD患者和相同数量的年龄匹配对照的关联分析没有显示D2、D3或D4受体基因或DAT基因的等位基因与PD之间的任何关联。因此,我们的研究结果表明,除了多巴胺系统中这些关键蛋白的等位基因变异外,其他因素也有助于帕金森病的易感性。
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Polymorphisms of dopamine receptor and transporter genes and Parkinson's disease.

Disturbances of the dopamine system are involved in the pathogenesis of idiopathic Parkinson's disease (PD). Although genetic factors may play a role in the etiology of PD, there is little direct evidence implicating a specific gene. We conducted a study to test the hypothesis that allelic variations of the dopamine receptors (D2, D3, D4) and the dopamine transporter (DAT) contribute to the susceptibility to PD. Association analyses of 70 Japanese PD patients and the same number of age-matched controls did not reveal any association between alleles of the D2, D3 or D4 receptor genes or the DAT gene and PD. Thus, our results suggest that factor(s) other than allelic variations of these key proteins in the dopamine system contribute to the susceptibility to PD.

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