PSEN1 and PSEN2 gene expression in Alzheimer's disease brain: a new approach

J Alzheimers Dis. 2014;42(3):757-60. doi: 10.3233/JAD-140033.

Abstract

Presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes encode the major component of y-secretase, which is responsible for sequential proteolytic cleavages of amyloid precursor proteins and the subsequent formation of amyloid-β peptides. 150 RNA samples from the entorhinal cortex, auditory cortex and hippocampal regions of individuals with Alzheimer's disease (AD) and controls elderly subjects were analyzed with using real-time rtPCR. There were no differences between groups for PSEN1 expression. PSEN2 was significantly downregulated in the auditory cortex of AD patients when compared to controls and when compared to other brain regions of the patients. Alteration in PSEN2 expression may be a risk factor for AD.

Keywords: Alzheimer's disease; brain; gene expression; presenilin-1; presenilin-2; γ-secretase.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / pathology*
  • Arabidopsis Proteins / metabolism
  • Brain / metabolism*
  • Brain / pathology
  • Female
  • Gene Expression Regulation / physiology
  • Humans
  • Intramolecular Transferases / metabolism
  • Male
  • Presenilin-1 / genetics*
  • Presenilin-1 / metabolism
  • Presenilin-2 / genetics*
  • Presenilin-2 / metabolism

Substances

  • Arabidopsis Proteins
  • Presenilin-1
  • Presenilin-2
  • Intramolecular Transferases
  • marneral synthase, Arabidopsis