Amyloid β secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease

M Cruts, B Dermaut, R Rademakers, G Roks… - Neuroscience …, 2001 - Elsevier
M Cruts, B Dermaut, R Rademakers, G Roks, M Van den Broeck, G Munteanu…
Neuroscience letters, 2001Elsevier
The beta-site of β-amyloid precursor protein cleaving enzyme (BACE) cleaves the β-amyloid
(Aβ) precursor protein at the N-terminal end of Aβ, allowing for the production of Aβ by C-
terminal γ-secretase cleavage. We hypothesized that over-activity of BACE might lead to the
overproduction of Aβ, hence causing Alzheimer's disease (AD). Molecular genetic analyses
of BACE in 9 autosomal dominant AD families and a population-based sample of 101
presenile AD cases did not identify genetic linkage, pathogenic mutations or genetic …
The beta-site of β-amyloid precursor protein cleaving enzyme (BACE) cleaves the β-amyloid (Aβ) precursor protein at the N-terminal end of Aβ, allowing for the production of Aβ by C-terminal γ-secretase cleavage. We hypothesized that over-activity of BACE might lead to the overproduction of Aβ, hence causing Alzheimer's disease (AD). Molecular genetic analyses of BACE in 9 autosomal dominant AD families and a population-based sample of 101 presenile AD cases did not identify genetic linkage, pathogenic mutations or genetic association with BACE, suggesting that BACE is not genetically involved in the etiology of AD.
Elsevier