Polymorphism in the BACE gene influences the risk for Alzheimer's disease

CM Kirschling, H Kölsch, C Frahnert, ML Rao… - …, 2003 - journals.lww.com
Pathological characteristics of Alzheimer's disease (AD) are neurofibrillary tangles and
amyloid-β (Aβ) plaques. Aβ is generated by cleavage of the amyloid precursor protein by β-
and γ-secretases. BACE (beta-site APP cleaving enzyme) was identified as the β-secretase.
Variations of the BACE gene might influence activity and function of the protein and, thus,
might influence the pathogenesis of AD. Consequently, we investigated the association of
different BACE polymorphisms with AD. BACE exon 5 polymorphism influenced the risk of …