BuChE K variant is decreased in Alzheimer's disease not in fronto-temporal dementia.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
Journal of Neural Transmission (Impact Factor: 2.87). 03/2010; 117(3):377-83. DOI: 10.1007/s00702-009-0358-y
Source: PubMed

ABSTRACT 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.

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    ABSTRACT: Butyrylcholinesterase (BChE) is an enzyme expressed in multiple organs and abundant in plasma. BChE can fluctuate in course of several reasons while both hypercholiensterasemia and hypocholinesterasemia are known. Considering evidence of BChE activity alterations, hepatocellular carcinoma, chronic liver diseases and poisoning with carbamates or organophosphates can be diagnosed by activity assay. BChE is responsible for detoxification reactions, and the compounds such as cocaine, succinylcholine, and acetylsalicylic acid are degraded in the body. The detoxification can be slowed in patients carrying the K variant of the enzyme. Summarization of literature, discussion on the meaning of BChE in the body, and the principles of BChE assay in samples are described in the review (Tab. 2, Fig. 8, Ref. 86). Keywords: butyrylcholinesterase; acetylcholinesterase; liver function test; organophosphate; carbamate; poisoning; dibucaine number; Alzheimer´s disease; BChE; AChE; K variant.
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