<it>BACE1 </it>gene variants do not influence BACE1 activity, levels of APP or Aβ isoforms in CSF in Alzheimer's disease

• Main Authors: Minthon Lennart, Andreasson Ulf, Zetterberg Henrik, Sjölander Annica, Blennow Kaj
• Format: Article
• Language: English
• Published: BMC 2010-09-01
• Series: Molecular Neurodegeneration
• Online Access: http://www.molecularneurodegeneration.com/content/5/1/37

<p>Abstract</p> <p>The <it>BACE1 </it>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 <it>BACE1 </it>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 <it>BACE1 </it>gene and correlated genotype data to a broad range of amyloid-related biomarkers in CSF, including BACE1 activity, levels of Aβ₄₀, Aβ_42,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 <it>BACE1 </it>were neither associated with amyloid-related biomarkers, nor with markers for axonal degeneration in AD.</p>