title: BuChE K variant is decreased in Alzheimer's disease  not in fronto-temporal dementia.
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.
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. alessandrabizzarro@libero.it
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bizzarro
authors.forename: V
authors.initials: V
authors.lastname: Guglielmi
authors.forename: R
authors.initials: R
authors.lastname: Lomastro
authors.forename: A
authors.initials: A
authors.lastname: Valenza
authors.forename: A
authors.initials: A
authors.lastname: Lauria
authors.forename: C
authors.initials: C
authors.lastname: Marra
authors.forename: M C
authors.initials: MC
authors.lastname: Silveri
authors.forename: F D
authors.initials: FD
authors.lastname: Tiziano
authors.forename: C
authors.initials: C
authors.lastname: Brahe
authors.forename: C
authors.initials: C
authors.lastname: Masullo
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000201:enzymology* / Q000235:genetics / Q000378:metabolism; D053327:Apolipoprotein E4 / Q000378:metabolism; D002091:Butyrylcholinesterase / Q000235:genetics / Q000378:metabolism*; D005260:Female; D057180:Frontotemporal Dementia / Q000201:enzymology* / Q000235:genetics / Q000378:metabolism; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007527:Isoenzymes / Q000378:metabolism; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D053327:Apolipoprotein E4; D007527:Isoenzymes; D002091:Butyrylcholinesterase