[Recent progress in 'HMGA1a' which causes aberrant splicing of Presenilin-2 pre-mRNA in sporadic Alzheimer's disease]

Nihon Rinsho. 2003 Apr;61(4):677-88.
[Article in Japanese]

Abstract

The aberrant splicing isoform(PS2V), generated by exon 5 skipping of the Presenilin-2(PS2) gene transcript, is a diagnostic feature of sporadic Alzheimer's disease(sAD). We found PS2V is hypoxia-inducible in SK-N-SH cells and purified a responsible trans-acting factor based on its binding to an exon 5 fragment. The factor was identified as the High Mobility Group protein A1a: (HMGA1a). HMGA1a bound to a specific sequence on exon5, located upstream of the 5'-splice site. HMGA1a expression was induced by hypoxia. Over-expression of HMGA1a generated PS2V, through interference with U1snRNP binding to the 5'-splice site and caused exon5 skipping. HMGA1a levels were increased in brain from sAD patients. We propose a novel mechanism of sAD that involves HMGA1a-induced aberrant splicing of PS2 pre-mRNA in the absence of any mutations.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Alzheimer Disease / genetics*
  • Exons / genetics
  • HMGA1a Protein / analysis
  • HMGA1a Protein / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Presenilin-2
  • RNA Splicing

Substances

  • Membrane Proteins
  • PSEN2 protein, human
  • Presenilin-2
  • HMGA1a Protein