Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
J Neural Transm (Vienna). 2010 Mar;117(3):377-83. doi: 10.1007/s00702-009-0358-y.
Alzheimer's disease (AD) is characterized by a significant reduction in AcetylCholinesterase and an increase in ButyrylCholinesterase (BuChE) activity. The existence of polymorphic regions on the BuChE gene has been previously described; the most frequently found polymorphism is the so-called K variant, which leads to a 30% decreased enzymatic activity. Different studies reported a positive association between K variant and AD, strongest among late-onset AD and Apolipoprotein E (APOE) e4 carriers. We analyzed APOE and BuChE polymorphisms in 167 AD and 59 fronto-temporal dementia (FTD) patients compared with 129 healthy controls (HC). We reported a significantly lower frequency of the BuChE K variant in AD compared with HC and FTD and a significant increased frequency of the K variant in FTD. These results are in agreement with the known increase of the BuChE activity in AD and support the evidence of different molecular pathways involved in the pathogenesis of AD and FTD.
阿尔茨海默病（AD）的特征是乙酰胆碱酯酶活性显著降低，丁酰胆碱酯酶（BuChE）活性增加。BuChE 基因上存在多态性区域，先前已有描述；最常见的多态性是所谓的 K 变体，导致酶活性降低 30%。不同的研究报告称 K 变体与 AD 之间存在正相关，在晚发性 AD 和载脂蛋白 E（APOE）e4 携带者中最强。我们分析了 167 例 AD 和 59 例额颞叶痴呆（FTD）患者与 129 例健康对照者（HC）的 APOE 和 BuChE 多态性。与 HC 和 FTD 相比，AD 患者 BuChE K 变体的频率显著降低，而 FTD 患者 BuChE K 变体的频率显著增加。这些结果与 AD 中 BuChE 活性增加的已知事实一致，并支持 AD 和 FTD 发病机制中涉及不同分子途径的证据。
