Funke Claudia, Soehn Anne S, Tomiuk Juergen, Riess Olaf, Berg Daniela
Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany.
J Neural Transm (Vienna). 2009 Apr;116(4):443-50. doi: 10.1007/s00702-009-0196-y. Epub 2009 Mar 3.
Parkinson's disease (PD) is characterized by the loss of dopaminergic neurons and the presence of intracytoplasmic inclusions (Lewy bodies). Iron, which is elevated in the substantia nigra of PD patients, seems to be of pivotal importance, because of its capacity to enhance the amplification of reactive oxygen species. As iron enters and exits the brain via transport proteins in the blood-brain barrier (BBB), these proteins may represent candidates for a genetic susceptibility to PD. P-glycoprotein (P-gp) is one important efflux pump in the BBB. There is evidence that the function of P-gp is impaired in PD patients. In the current study we examined ten coding single nucleotide polymorphisms in the multidrug resistance gene 1 (MDR1) encoding P-gp to assess whether certain genotypes are associated with PD. However, genotyping of 300 PD patients and 302 healthy controls did not reveal a significant association between coding MDR1 gene polymorphisms and PD.
帕金森病（PD）的特征是多巴胺能神经元的丧失和胞质内包涵体（路易小体）的存在。铁在PD患者的黑质中含量升高，由于其增强活性氧物种放大的能力，似乎具有关键重要性。由于铁通过血脑屏障（BBB）中的转运蛋白进出大脑，这些蛋白可能代表PD遗传易感性的候选因素。P-糖蛋白（P-gp）是BBB中的一种重要外排泵。有证据表明PD患者中P-gp的功能受损。在本研究中，我们检测了编码P-gp的多药耐药基因1（MDR1）中的十个编码单核苷酸多态性，以评估某些基因型是否与PD相关。然而，对300例PD患者和302例健康对照的基因分型并未揭示编码MDR1基因多态性与PD之间存在显著关联。
