Allele-specific overexpression in astrocytes of an Alzheimer's disease associated alpha-1-antichymotrypsin promoter polymorphism

Brain Res Mol Brain Res. 2004 Nov 24;131(1-2):88-92. doi: 10.1016/j.molbrainres.2004.08.012.

Abstract

Alpha-1-antichymotrypsin (ACT), a serine proteinase inhibitor is synthesised predominantly in the liver and in other tissues including the brain. ACT is a major component of the senile plaques (SP) characteristic of Alzheimer's disease (AD). Increased production locally in the brain may be associated with Alzheimer's disease as ACT acts as a "pathological chaperone", promoting beta-amyloid assembly into neurotoxic fibrils. Recent reports suggest that the T allele of a G/T polymorphism at position -51 of ACT is associated with cognitive decline in AD patients. We demonstrate that the T allele is markedly overexpressed by almost 225% in an astrocytic cell line in response to oncostatin M (OSM) compared with a 35% increase in a mixed population of brain-derived cells. This effect is probably mediated by a higher binding affinity of the transcription initiation complex to the higher expressing allele and overexpression of ACT by astrocytes could thus contribute to increased beta-amyloid fibril formation in AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alzheimer Disease / physiopathology*
  • Astrocytes / cytology
  • Astrocytes / physiology*
  • Base Sequence
  • Cell Line
  • Electrophoretic Mobility Shift Assay
  • Gene Expression
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics
  • alpha 1-Antichymotrypsin / genetics*
  • alpha 1-Antichymotrypsin / metabolism

Substances

  • alpha 1-Antichymotrypsin