Variations in the BDNF gene in autopsy-confirmed Alzheimer's disease and dementia with Lewy bodies in Japan
Variations in the BDNF gene in autopsy-confirmed Alzheimer's disease and dementia with Lewy bodies in Japan
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DOI：
10.1159/000094933
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发表时间：
2006-01-01
影响因子：
2.4
通讯作者：
Kosaka, Kenji
中科院分区：
文献类型：
--
作者：
Akatsu, Hiroyasu;Yamagata, Hidehisa D.;Kosaka, Kenji
背景/目的：脑源性神经营养因子（BDNF）与海马和黑质纹状体多巴胺能功能相关。数据显示，在阿尔茨海默病 (AD) 和帕金森病 (PD) 中，BDNF 水平降低，这表明 BDNF 功能在这些疾病的发病机制中发挥着重要作用。事实上，BDNF 基因的变异可能会导致 AD 和 PD 的易感性。最近，功能性 BDNF Val66Met 多态性被发现与情景记忆和海马功能、细胞内运输以及 BDNF 的活动依赖性分泌有关。迄今为止，关于 AD 或 PD 与 BDNF 启动子区域的 Val66Met 或 C270T 多态性之间的相关性，存在一些相互矛盾的报道，尽管尚未发表有关路易体痴呆 (DLB) 痴呆的数据。在本研究中，我们研究了 BDNF 多态性与 AD 或 DLB 易感性之间可能存在的关联。方法：采用聚合酶链反应-限制性片段长度多态性方法对尸检证实的人体样本进行BDNF基因分型。结果和结论：比较患者和对照，BDNF 基因型和等位基因的分布没有显着差异。我们的研究结果表明，这些 BDNF 多态性不太可能在日本人群 AD 和 DLB 的发病机制中发挥主要作用。版权所有 (C) 2006 S. Karger AG，巴塞尔。
Background/Aim: Brain-derived neurotrophic factor ( BDNF) is associated with the hippocampus and the nigrostriatal dopaminergic function. Data showing that its level was reduced in Alzheimer's disease ( AD) and Parkinson's disease (PD) suggested that the BDNF function must play an important role in the pathogenetics of these diseases. Indeed, variation in the BDNF gene may confer susceptibility to AD and PD development. Recently, a functional BDNF Val66Met polymorphism has been found to be associated with episodic memory and hippocampal function, with intracellular trafficking, and with activity-dependent secretion of BDNF. To date, there have been several conflicting reports on the correlation between AD or PD and Val66Met or C270T polymorphism in the BDNF promoter region, although no data on this relationship have been published with respect to dementia with Lewy bodies (DLB). In the present study, we investigated a possible association between such BDNF polymorphisms and susceptibility to AD or DLB. Methods: BDNF genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism method in autopsy-confirmed human samples. Results and Conclusion: On comparing patients and controls, the distribution of BDNF genotypes and alleles did not differ significantly. Our findings suggest that it is unlikely that these BDNF polymorphisms play a major role in the pathogenesis of AD and DLB in the Japanese population. Copyright (C) 2006 S. Karger AG, Basel.