BuChE K Variant is Decreased in Alzheimer's Disease Not in Fronto-temporal Dementia

Overview

Journal J Neural Transm (Vienna)

Specialties Neurology
Physiology

Date 2010 Jan 9

PMID 20058037

Citations 5

Authors

Alessandra Bizzarro

V Guglielmi

R Lomastro

A Valenza

A Lauria

C Marra

M C Silveri

F D Tiziano

C Brahe

C Masullo

Affiliations

Soon will be listed here.

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.

Citing Articles

Confirmed Synergy Between the ɛ4 Allele of Apolipoprotein E and the Variant K of Butyrylcholinesterase as a Risk Factor for Alzheimer's Disease: A Systematic Review and Meta-Analysis.

Ratis R, Dacoregio M, Simao-Silva D, Mateus R, Machado L, Bonini J J Alzheimers Dis Rep. 2023; 7(1):613-625.

PMID: 37483326 PMC: 10357125. DOI: 10.3233/ADR-220084.

Association between butyrylcholinesterase K variant and mild cognitive impairment in the Thai community-dwelling patients.

Pongthanaracht N, Yanarojana S, Pinthong D, Unchern S, Thithapandha A, Assantachai P Clin Interv Aging. 2017; 12():897-901.

PMID: 28603409 PMC: 5457172. DOI: 10.2147/CIA.S137264.

Deleterious Effect of Butyrylcholinesterase K-Variant in Donepezil Treatment of Mild Cognitive Impairment.

Sokolow S, Li X, Chen L, Taylor K, Rotter J, Rissman R J Alzheimers Dis. 2016; 56(1):229-237.

PMID: 27911294 PMC: 5534361. DOI: 10.3233/JAD-160562.

Butyrylcholinesterase K variant and Alzheimer's disease risk: a meta-analysis.

Wang Z, Jiang Y, Wang X, Du Y, Xiao D, Deng Y Med Sci Monit. 2015; 21:1408-13.

PMID: 25978873 PMC: 4444173. DOI: 10.12659/MSM.892982.

A review of butyrylcholinesterase as a therapeutic target in the treatment of Alzheimer's disease.

Nordberg A, Ballard C, Bullock R, Darreh-Shori T, Somogyi M Prim Care Companion CNS Disord. 2013; 15(2).

PMID: 23930233 PMC: 3733526. DOI: 10.4088/PCC.12r01412.

References

Panegyres P, Mamotte C, Vasikaran S, Wilton S, Fabian V, Kakulas B . Butyrycholinesterase K variant and Alzheimer's disease. J Neurol. 1999; 246(5):369-70. DOI: 10.1007/s004150050365. View

Geula C, Mesulam M . Cortical cholinergic fibers in aging and Alzheimer's disease: a morphometric study. Neuroscience. 1989; 33(3):469-81. DOI: 10.1016/0306-4522(89)90399-0. View

Sodeyama N, Yamada M, Itoh Y, Otomo E, Suematsu N, Matsushita M . Association between butyrylcholinesterase K variant and the Alzheimer type neuropathological changes in apolipoprotein E epsilon4 carriers older than 75 years. J Neurol Neurosurg Psychiatry. 1999; 67(5):693-4. PMC: 1736609. DOI: 10.1136/jnnp.67.5.693. View

Darreh-Shori T, Brimijoin S, Kadir A, Almkvist O, Nordberg A . Differential CSF butyrylcholinesterase levels in Alzheimer's disease patients with the ApoE epsilon4 allele, in relation to cognitive function and cerebral glucose metabolism. Neurobiol Dis. 2006; 24(2):326-33. DOI: 10.1016/j.nbd.2006.07.013. View

Mullenbach R, Lagoda P, Welter C . An efficient salt-chloroform extraction of DNA from blood and tissues. Trends Genet. 1989; 5(12):391. View

Blesa R, Bullock R, He Y, Bergman H, Gambina G, Meyer J . Effect of butyrylcholinesterase genotype on the response to rivastigmine or donepezil in younger patients with Alzheimer's disease. Pharmacogenet Genomics. 2006; 16(11):771-4. DOI: 10.1097/01.fpc.0000220573.05714.ac. View

Scacchi R, De Bernardini L, Mantuano E, Donini L, Vilardo T, Corbo R . Apolipoprotein E (APOE) allele frequencies in late-onset sporadic Alzheimer's disease (AD), mixed dementia and vascular dementia: lack of association of epsilon 4 allele with AD in Italian octogenarian patients. Neurosci Lett. 1995; 201(3):231-4. DOI: 10.1016/0304-3940(95)12190-0. View

Vaisi Raygani A, Zahrai M, Soltanzadeh A, Doosti M, Javadi E, Pourmotabbed T . Analysis of association between butyrylcholinesterase K variant and apolipoprotein E genotypes in Alzheimer's disease. Neurosci Lett. 2004; 371(2-3):142-6. DOI: 10.1016/j.neulet.2004.08.057. View

Tilley L, Morgan K, Grainger J, Marsters P, Morgan L, Lowe J . Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease. Eur J Hum Genet. 1999; 7(6):659-63. DOI: 10.1038/sj.ejhg.5200351. View

10.

Lee D, Liu H, Liu T, Chi C, Hong C . No association between butyrylcholinesterase K-variant and Alzheimer disease in Chinese. Am J Med Genet. 2000; 96(2):167-9. View

11.

Mateo I, Llorca J, Infante J, Rodriguez-Rodriguez E, Berciano J, Combarros O . Gene-gene interaction between 14-3-3 zeta and butyrylcholinesterase modulates Alzheimer's disease risk. Eur J Neurol. 2008; 15(3):219-22. DOI: 10.1111/j.1468-1331.2008.02059.x. View

12.

Maetzler W, Keller S, Michelis J, Koehler N, Stransky E, Becker C . No differences of butyrylcholinesterase protein activity and allele frequency in Lewy body diseases. Neurobiol Dis. 2009; 35(2):296-301. DOI: 10.1016/j.nbd.2009.05.014. View

13.

Ballard C, Morris C, Kalaria R, McKeith I, Perry R, Perry E . The k variant of the butyrylcholinesterase gene is associated with reduced phosphorylation of tau in dementia patients. Dement Geriatr Cogn Disord. 2005; 19(5-6):357-60. DOI: 10.1159/000084705. View

14.

Diamant S, Podoly E, Friedler A, Ligumsky H, Livnah O, Soreq H . Butyrylcholinesterase attenuates amyloid fibril formation in vitro. Proc Natl Acad Sci U S A. 2006; 103(23):8628-33. PMC: 1482631. DOI: 10.1073/pnas.0602922103. View

15.

Duara R, Barker W, Loewenstein D, Grau L, Gilchrist D, Sevush S . Alzheimer's disease: interaction of apolipoprotein E genotype, family history of dementia, gender, education, ethnicity, and age of onset. Neurology. 1996; 46(6):1575-9. DOI: 10.1212/wnl.46.6.1575. View

16.

Grubber J, Saunders A, Scott W, Martin E, Haynes C, Conneally P . Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K). Neurosci Lett. 1999; 269(2):115-9. DOI: 10.1016/s0304-3940(99)00426-7. View

17.

Deniz-Naranjo M, Munoz-Fernandez C, Alemany-Rodriguez M, Perez-Vieitez M, Aladro-Benito Y, Irurita-Latasa J . Butyrylcholinesterase, ApoE and Alzheimer's disease in a population from the Canary Islands (Spain). Neurosci Lett. 2007; 427(1):34-8. DOI: 10.1016/j.neulet.2007.08.059. View

18.

OBrien K, Saxby B, Ballard C, Grace J, Harrington F, Ford G . Regulation of attention and response to therapy in dementia by butyrylcholinesterase. Pharmacogenetics. 2003; 13(4):231-9. DOI: 10.1097/00008571-200304000-00008. View

19.

Piccardi M, Congiu D, Squassina A, Manconi F, Putzu P, Mereu R . Alzheimer's disease: case-control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample. Am J Med Genet B Neuropsychiatr Genet. 2007; 144B(7):895-9. DOI: 10.1002/ajmg.b.30548. View

20.

Mesulam M, Geula C . Butyrylcholinesterase reactivity differentiates the amyloid plaques of aging from those of dementia. Ann Neurol. 1994; 36(5):722-7. DOI: 10.1002/ana.410360506. View