Combarros Onofre, Infante Jon, Llorca Javier, Berciano José
Neurology Service, University Hospital 'Marqués de Valdecilla', University of Cantabria, Santander, Spain.
Dement Geriatr Cogn Disord. 2004;18(1):55-8. doi: 10.1159/000077736. Epub 2004 Apr 6.
Memory acquisition and consolidation are associated with an increase in brain-derived neurotrophic factor (BDNF) in synapses, particularly those innervating the hippocampus and cerebral cortex. A polymorphism producing an amino acid substitution (valine to methionine) at codon 66 of the BDNF gene could affect intracellular processing and secretion of BDNF and lead to impairments in hippocampal function. Preliminary evidence in an Italian population indicates that this polymorphism is a predisposing factor for sporadic Alzheimer's disease (AD). A case-control study utilizing a clinically well-defined group of 237 sporadic AD patients and 218 control subjects was performed to test this association. The current study does not demonstrate any significant difference in Val66Met BDNF genotype or allele frequencies between AD patients and controls. Our study in the Spanish population argues against the hypothesis that this polymorphism is causally related to AD.
记忆的获取与巩固与突触中脑源性神经营养因子（BDNF）的增加有关，尤其是那些支配海马体和大脑皮层的突触。BDNF基因第66位密码子处产生氨基酸替换（缬氨酸替换为甲硫氨酸）的多态性可能会影响BDNF的细胞内加工和分泌，并导致海马体功能受损。意大利人群的初步证据表明，这种多态性是散发性阿尔茨海默病（AD）的一个易感因素。进行了一项病例对照研究，使用了一组临床明确的237例散发性AD患者和218例对照受试者来检验这种关联。目前的研究未显示AD患者与对照之间在Val66Met BDNF基因型或等位基因频率上有任何显著差异。我们在西班牙人群中的研究反驳了这种多态性与AD存在因果关系的假说。
