Splice variants of the Alzheimer's disease beta-secretase, BACE1

Neurogenetics. 2013 Feb;14(1):1-9. doi: 10.1007/s10048-012-0348-3. Epub 2012 Nov 11.

Abstract

Cleavage of the amyloid precursor protein by enzymes commonly referred to as β- and γ-secretase constitute an important process in the pathogenesis of Alzheimer's disease (AD). The regulation of this process is therefore an important subject of investigation. Numerous sources of endogenous regulation have been identified, and one of these is the relative abundance and regulation of splice variants of the β-secretase, BACE1 (β-site amyloid precursor protein cleaving enzyme 1). In this review, we will briefly discuss the main characteristics of BACE1, review the different variants of this enzyme that have been identified to date, and highlight their possible implication in AD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Amyloid Precursor Protein Secretases / genetics*
  • Amyloid Precursor Protein Secretases / metabolism
  • Amyloid Precursor Protein Secretases / physiology
  • Amyloid beta-Protein Precursor / metabolism
  • Animals
  • Aspartic Acid Endopeptidases / genetics*
  • Aspartic Acid Endopeptidases / metabolism
  • Aspartic Acid Endopeptidases / physiology
  • Genetic Variation* / physiology
  • Humans
  • Protein Isoforms / genetics
  • Protein Processing, Post-Translational / genetics
  • RNA Splicing / genetics*

Substances

  • Amyloid beta-Protein Precursor
  • Protein Isoforms
  • Amyloid Precursor Protein Secretases
  • Aspartic Acid Endopeptidases
  • BACE1 protein, human