Homozygosity for the K variant of BCHE gene increases the risk for development of neurofibrillary pathology but not amyloid deposits ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-08-16

AUTHORS

Estifanos Ghebremedhin, Dietmar Rudolf Thal, Christian Schultz, Heiko Braak, Thomas Deller

ABSTRACT

The presence of the K variant of the butyrylcholinesterase gene (BCHE-K) has been associated with the severity of Alzheimer’s disease (AD)-related neurofibrillary tangles (NFT) and amyloid β-protein (Aβ). To examine the impact of BCHE-K on the development of initial NFT- and Aβ pathologies in young individuals below the age of 45 years a total of 124 cases (110 cases with NFT-only pathology, 14 cases with Aβ-only pathology) and 104 matched controls were genotyped for BCHE-K. Homozygosity for BCHE-K was highly overrepresented among NFT-only group (8.2%) compared with controls (1%, P = 0.02) or the Aβ-only group (0%). The prevalence of the K allele, however, was comparable among groups. These findings suggest that homozygosity, but not heterozygosity, for BCHE-K is a potential risk factor for the development of NFT pathology in young individuals implicating BCHE-K in the pathogenesis of early AD. More... »

PAGES

359-363

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00401-007-0276-8

DOI

http://dx.doi.org/10.1007/s00401-007-0276-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024508935

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17701416


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