Funke Claudia, Tomiuk Juergen, Riess Olaf, Berg Daniela, Soehn Anne S
Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Calwerstrasse 7, Tuebingen 72076, Germany.
J Neural Transm (Vienna). 2009 Jul;116(7):853-9. doi: 10.1007/s00702-009-0237-6. Epub 2009 May 28.
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 (SN) of PD patients, seems to be of pivotal importance, because of its capacity to enhance the amplification of reactive-oxygen species. Therefore, it is tempting that the iron-releasing key enzyme in heme catabolism, heme oxygenase-1 (HO-1), may represent a candidate for a genetic susceptibility to PD. In the current study, we examined a (GT)n fragment length polymorphism in the promoter region, as well as three coding SNPs in the HO-1 gene in order to assess if certain genotypes are associated with PD. Furthermore, peripheral blood expression levels of HO-1 in PD patients and healthy probands were compared. However, our analyses did not reveal a significant association of these genetic markers in the HO-1 gene with an increased susceptibility to 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（SN）中含量升高，由于其增强活性氧放大的能力，似乎具有关键重要性。因此，血红素分解代谢中的铁释放关键酶血红素加氧酶-1（HO-1）可能是PD遗传易感性的候选因素，这很有吸引力。在当前研究中，我们检测了启动子区域的（GT）n片段长度多态性以及HO-1基因中的三个编码单核苷酸多态性（SNP），以评估某些基因型是否与PD相关。此外，还比较了PD患者和健康对照者外周血中HO-1的表达水平。然而，我们的分析未发现HO-1基因中的这些遗传标记与PD易感性增加之间存在显著关联。
