Josviak N D, Batistela M S, Souza R K M, Wegner N R, Bono G F, Sulzbach C D, Simão-Silva D P, Piovezan M R, Souza R L R, Furtado-Alle L
a Department of Genetics , Federal University of Parana , Curitiba , Brazil.
b Ambulatory of Memory and Behavior Disorders , Neurology Institute of Curitiba , Curitiba , Brazil.
Int J Neurosci. 2017 Dec;127(12):1082-1086. doi: 10.1080/00207454.2017.1329203. Epub 2017 May 23.
Butyrylcholinesterase (BChE) is an enzyme encoded by BCHE gene, responsible for secondary hydrolysis of the acetylcholine. K and -116A BCHE variants were associated with decrease in plasma BChE activity, and their influence has been investigated in diseases with a cholinergic deficit such as Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). In order to check the influence of BCHE genetic variants on enzymatic activity, all patients and controls were genotyped for K and -116A variants. We found lower plasma BChE activity in DLB patients compared to elderly controls and to AD independent of the presence of K or -116A variants. Our results suggest that the reduction of total plasma BChE activity is probably associated with a feedback mechanism and provides a future perspective of using this enzyme as a possible plasmatic marker for differential diagnosis between AD and DLB.
丁酰胆碱酯酶（BChE）是一种由BCHE基因编码的酶，负责乙酰胆碱的二次水解。K和-116A BCHE变体与血浆BChE活性降低有关，并且已经在诸如阿尔茨海默病（AD）和路易体痴呆（DLB）等具有胆碱能缺陷的疾病中研究了它们的影响。为了检查BCHE基因变体对酶活性的影响，对所有患者和对照进行了K和-116A变体的基因分型。我们发现，与老年对照组和AD患者相比，DLB患者的血浆BChE活性较低，且与K或-116A变体的存在无关。我们的结果表明，血浆总BChE活性的降低可能与一种反馈机制有关，并为将该酶用作AD和DLB鉴别诊断的可能血浆标志物提供了未来的前景。
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