Déniz-Naranjo Maria Cándida, Muñoz-Fernández Carmen, Alemany-Rodríguez Maria Jesús, del Carmen Pérez-Vieitez Maria, Aladro-Benito Yolanda, Irurita-Latasa Juncal, Sánchez-García Florentino
Immunology Department, Hospital Universitario Dr. Negrín de Gran Canaria, Bco. de la Ballena s/n, 35010 Las Palmas de Gran Canaria, Spain.
Neurosci Lett. 2007 Oct 29;427(1):34-8. doi: 10.1016/j.neulet.2007.08.059. Epub 2007 Sep 4.
Cholinergic dysfunction is a major neurochemical feature in Alzheimer's disease (AD), accountable for many cognitive dysfunctions and some psychiatric symptoms. Butyrylcholinesterase (BChE) is one of the cholinesterases with increased activity in the brain of Alzheimer's patients. Several mutations code for different BChE, such as the K variant, which is the most common and is capable of reducing BChE activity by 30%. We studied the relationship between this K variant and Alzheimer's disease in our population from the Canary Islands (Spain).
We used DNA PCR-RFLP techniques to compare 282 patients who had been diagnosed with probable Alzheimer's disease--according to NINCS-ADRDA criteria--with 312 control subjects confirmed to be free of cognitive impairment as assessed by using the CAMDEX cognitive subscale CAMCOG.
In our population the K variant of BChE is linked to the age of diagnosis of Alzheimer's disease, since AD individuals with this allele presented the disease at a later stage. No other susceptibility relations are exposed in this study. In addition, the BChE allelic frequencies in our population are higher than those previously reported.
胆碱能功能障碍是阿尔茨海默病(AD)的主要神经化学特征,与许多认知功能障碍和一些精神症状有关。丁酰胆碱酯酶(BChE)是阿尔茨海默病患者大脑中活性增加的胆碱酯酶之一。几种突变编码不同的BChE,如K变体,它是最常见的,能够使BChE活性降低30%。我们在来自加那利群岛(西班牙)的人群中研究了这种K变体与阿尔茨海默病之间的关系。
我们使用DNA PCR-RFLP技术,将282例根据NINCS-ADRDA标准被诊断为可能患有阿尔茨海默病的患者,与312例经使用CAMDEX认知分量表CAMCOG评估确认无认知障碍的对照者进行比较。
在我们的人群中,BChE的K变体与阿尔茨海默病的诊断年龄有关,因为携带此等位基因的AD个体在较晚阶段出现该疾病。本研究未发现其他易感性关系。此外,我们人群中BChE的等位基因频率高于先前报道的频率。