BACE1 gene promoter single-nucleotide polymorphisms in Alzheimer's disease

W Zhou, F Cai, Y Li, GS Yang, KD O'Connor… - Journal of molecular …, 2010 - Springer
W Zhou, F Cai, Y Li, GS Yang, KD O'Connor, RA Holt, W Song
Journal of molecular neuroscience, 2010Springer
Alzheimer's disease (AD) is the most neurodegenerative disorder leading to dementia.
Neuritic plaque formation in brains is a hallmark of AD pathogenesis. Amyloid β protein (Aβ)
is the central component of neuritic plaques. Processing β-amyloid precursor protein (APP)
at the β-secretase site by the beta-site APP cleaving enzyme 1 (BACE1) is essential for
generation of Aβ. Elevation of BACE1 activity and expression has been reported in AD
brains. However, no mutation in the BACE1 coding sequence has been identified in AD …
Abstract
Alzheimer’s disease (AD) is the most neurodegenerative disorder leading to dementia. Neuritic plaque formation in brains is a hallmark of AD pathogenesis. Amyloid β protein (Aβ) is the central component of neuritic plaques. Processing β-amyloid precursor protein (APP) at the β-secretase site by the beta-site APP cleaving enzyme 1 (BACE1) is essential for generation of Aβ. Elevation of BACE1 activity and expression has been reported in AD brains. However, no mutation in the BACE1 coding sequence has been identified in AD cases. Human BACE1 expression is tightly regulated at the transcription and translation level. To determine whether there is any single-nucleotide polymorphisms in the BACE1 gene promoter region affecting BACE1 expression in AD pathogenesis, in this study, we screened 2.6 kb of the human BACE1 gene promoter region from late-onset AD patients and found that there was no significant association between single-nucleotide polymorphisms and AD cases.
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