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

Sjolander, Annica; Zetterberg, Henrik; Andreasson, Ulf; Minthon, Lennart LU and Blennow, Kaj (2010) In Molecular Neurodegeneration 5.
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 beta-secretase responsible for the generation of Alzheimer-associated amyloid beta-proteins (A beta) 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 Ab40, A beta(42),... (More)
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 beta-secretase responsible for the generation of Alzheimer-associated amyloid beta-proteins (A beta) 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 Ab40, A beta(42), alpha- and beta-cleaved soluble APP (alpha-sAPP and beta-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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Molecular Neurodegeneration
volume
5
publisher
BioMed Central
external identifiers
  • wos:000282484900001
  • scopus:77957738028
ISSN
1750-1326
DOI
10.1186/1750-1326-5-37
language
English
LU publication?
yes
id
7805ce46-a077-4960-b67d-a427b069b119 (old id 1726972)
date added to LUP
2010-11-23 10:10:14
date last changed
2018-05-29 11:19:27
@article{7805ce46-a077-4960-b67d-a427b069b119,
  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 beta-secretase responsible for the generation of Alzheimer-associated amyloid beta-proteins (A beta) 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 Ab40, A beta(42), alpha- and beta-cleaved soluble APP (alpha-sAPP and beta-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.},
  author       = {Sjolander, Annica and Zetterberg, Henrik and Andreasson, Ulf and Minthon, Lennart and Blennow, Kaj},
  issn         = {1750-1326},
  language     = {eng},
  publisher    = {BioMed Central},
  series       = {Molecular Neurodegeneration},
  title        = {BACE1 gene variants do not influence BACE1 activity, levels of APP or A beta isoforms in CSF in Alzheimer's disease},
  url          = {http://dx.doi.org/10.1186/1750-1326-5-37},
  volume       = {5},
  year         = {2010},
}