BACE1 gene variants do not influence BACE1 activity, levels of APP or Aß isoforms in CSF in Alzheimer's disease.

Sjolander, A., Zetterberg, H., Andreasson, U., Minthon, L., Blennow, K.
Journal   Mol Neurodegener.
Species  
Analytes Measured   Abeta 40 , APP
Matrix Tested   Cerebrospinal fluid (CSF)
Year   2010
Volume   5
Page Numbers  
Application   Alzheimers
Abstract
The BACE1 gene encodes the beta-site APP-cleaving enzyme 1 and has been associated with Alzheimer's disease (AD). BACE1 is the most important β-secretase responsible for the generation of Alzheimer-associated amyloid β-proteins (Aβ) and may play a role in the amyloidogenic process in AD. We hypothesized that BACE1 gene variants might influence BACE1 activity or other markers for APP metabolism in the cerebrospinal fluid (CSF) and thereby contribute to the development of AD. We genotyped a Swedish sample of 269 AD patients for the rs638405 single nucleotide polymorphism (SNP) in the BACE1 gene and correlated genotype data to a broad range of amyloid-related biomarkers in CSF, including BACE1 activity, levels of Aβ40, Aβ42, α- and β-cleaved soluble APP (α-sAPP and β-sAPP), as well as markers for Alzheimer-type axonal degeneration, i.e., total-tau and phospho-tau181. Gene variants of BACE1 were neither associated with amyloid-related biomarkers, nor with markers for axonal degeneration in AD.

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