Department of Research and Development, Division of Psychiatry, St. Olav University Hospital, Trondheim, Norway.
Int J Neurosci. 2012 Mar;122(3):124-32. doi: 10.3109/00207454.2011.631716. Epub 2011 Dec 12.
The influence of variations in genes coding for dopamine and serotonin transporters and receptors on the expression of these structures in the brains of patients with Parkinson's disease (PD) is not known. In order to investigate the significance of dopamine and serotonin transporter and receptor gene polymorphisms on the expression of dopamine and serotonin transporters and the dopamine D(2) and serotonin 5HT(2A) receptors in brain tissue in PD, we conducted a study on brain autopsy material from 16 patients diagnosed with clinical PD and 11 controls. The polymorphisms studied were DAT1 VTNR, DRD2 Taq1A, 5HTTLPR, and 5HTR2A 102 T>C, 516 C>T, His425Tyr, and Thr25Asn. Compared to control subjects, patients with PD had a significantly lowered radioligand binding to the dopamine transporter (DAT) in nucleus caudatus (p = .001) and putamen (p = .008), and to the serotonin transporter in gyrus cingulatus (p = .010) and nucleus caudatus (p = .032). We did not observe any significant associations between genetic polymorphisms and the extent of radioligand binding or between the polymorphisms and a diagnosis of PD. In conclusion, the density of brain dopamine and serotonin transporters in patients with PD was reduced. However, there were no associations between the investigated genotypes and the expression of the corresponding receptors and transporters.
多巴胺和 5-羟色胺转运体和受体基因编码的变异对帕金森病（PD）患者脑内这些结构表达的影响尚不清楚。为了研究多巴胺和 5-羟色胺转运体和受体基因多态性对 PD 脑组织中多巴胺和 5-羟色胺转运体以及多巴胺 D（2）和 5-羟色胺 5HT（2A）受体表达的意义，我们对 16 例临床诊断为 PD 的患者和 11 例对照者的尸检脑组织进行了研究。研究的多态性为 DAT1 VTNR、DRD2 Taq1A、5HTTLPR 和 5HTR2A 102 T>C、516 C>T、His425Tyr 和 Thr25Asn。与对照组相比，PD 患者尾状核（p =.001）和壳核（p =.008）多巴胺转运体（DAT）和扣带回皮质（p =.010）和尾状核（p =.032）5-羟色胺转运体的放射性配体结合明显降低。我们没有观察到遗传多态性与放射性配体结合程度之间或多态性与 PD 诊断之间存在任何显著关联。总之，PD 患者脑内多巴胺和 5-羟色胺转运体的密度降低。然而，所研究的基因型与相应受体和转运体的表达之间没有关联。
