Department of Physiotherapy, Faculty of Physical Education and Health in Biala Podlaska, Józef Piłsudski University of Physical Education in Warsaw, Biala Podlaska, Poland.
Department of Kinesiology, Wroclaw University of Health and Sport Science, Wroclaw, Poland.
Acta Neurobiol Exp (Wars). 2024 Oct 11;84(3):296-308. doi: 10.55782/ane-2024-2476.
Brain-derived neurotrophic factor (BDNF) is involved in the maintenance of dopamine level and the survival of dopaminergic neurons, which may affect the functionality of brain structures responsible for motor and cognitive function. The aim of the study was to assess the association of individual and combined single nucleotide polymorphism (SNP) in the rs6265 BDNF (Val66Met), rs397595 DAT (SLC6A3), and rs4680 COMT (Val158Met) genes with early‑onset of Parkinson's disease (PD) patients. Moreover, we assessed the association between the BDNF Val66Met polymorphism and the level of BDNF protein in the serum of patients with PD and controls. The study involved 163 patients with idiopathic PD divided into early onset (<55 years) and late‑onset (>55 years) groups and 91 healthy age‑matched people (Control). The SNP were determined using the TaqMan Real‑Time PCR method. Serum BDNF levels were determined by ELISA assay. The risk of developing early PD in people with the BDNF genotype AG increases threefold in comparison with the carriers of the BDNF genotype GG. In PD patients and healthy people with the BDNF genotypes AG and AA, a lower serum BDNF level was found compared to those with the BDNF genotype GG in both groups. The results of our study indicate that the presence of the Val66Met BDNF gene polymorphism is associated with reduced blood BDNF levels and an elevated risk of developing early‑onset PD. This effect appears to be more pronounced in men.
脑源性神经营养因子（BDNF）参与多巴胺水平的维持和多巴胺能神经元的存活，这可能影响负责运动和认知功能的脑结构的功能。本研究旨在评估 rs6265 BDNF（Val66Met）、rs397595 DAT（SLC6A3）和 rs4680 COMT（Val158Met）基因的个体和联合单核苷酸多态性（SNP）与早发性帕金森病（PD）患者的相关性。此外，我们还评估了 BDNF Val66Met 多态性与 PD 患者和对照组血清 BDNF 蛋白水平之间的关系。该研究纳入了 163 名特发性 PD 患者，分为早发性（<55 岁）和晚发性（>55 岁）组，以及 91 名年龄匹配的健康对照者（对照组）。采用 TaqMan 实时 PCR 法检测 SNP。采用 ELISA 法检测血清 BDNF 水平。与 BDNF 基因型 GG 的携带者相比，BDNF 基因型 AG 的携带者发生早发性 PD 的风险增加三倍。与 BDNF 基因型 GG 的患者和对照组相比，PD 患者和对照组中 BDNF 基因型 AG 和 AA 的患者血清 BDNF 水平较低。我们的研究结果表明，BDNF 基因 Val66Met 多态性的存在与降低血液 BDNF 水平和增加早发性 PD 的发病风险有关。这种影响在男性中更为明显。
