N141I mutant presenilin-2 gene enhances neuronal cell death and decreases bcl-2 expression

Life Sci. 2002 Apr 21;70(21):2567-80. doi: 10.1016/s0024-3205(02)01514-x.

Abstract

A missense mutation (N1411) in Presenilin-2 (PS-2) gene is associated with early-onset familial Alzheimer's disease. In this study, SK-N-SH human neuroblastoma cells were transfected with wild-type and mutant PS-2 gene to examine presenilin-2 effects on apoptosis. Serum deprivation resulted in enhanced apoptosis in mutant PS-2 comparing with wild-type PS-2. Similarly, mutant PS-2 induced lactate dehydrogenase release to greater extent than wild-type PS-2. Time course experiment demonstrated that the increase in caspase-3-like activity was more pronounced and accelerated in mutant PS-2, compared to wild-type PS-2. While a significant decrease in bcl-2, an anti-apoptotic molecule, occurred in the cells overexpressing mutant PS-2, no significant change was observed in bax, a pro-apoptotic molecule, as compared with the cells overexpressing wild-type PS-2. Our study demonstrated that mutant PS-2 induces apoptosis accompanied by increased caspase-3-like activity and decreased bcl-2 expression in neuronal cells after serum-deprivation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis / genetics*
  • Blotting, Western
  • Caspase 3
  • Caspases / metabolism
  • Cell Count
  • Cloning, Molecular
  • Culture Media, Serum-Free
  • DNA, Complementary / biosynthesis
  • DNA, Complementary / genetics
  • Genes, bcl-2 / genetics*
  • Humans
  • L-Lactate Dehydrogenase / metabolism
  • Membrane Proteins / genetics*
  • Microscopy, Fluorescence
  • Mutation*
  • Nerve Tissue Proteins / biosynthesis
  • Nerve Tissue Proteins / genetics
  • Neurons / physiology*
  • Presenilin-2
  • Proto-Oncogene Proteins / biosynthesis
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-bcl-2*
  • Transfection
  • Tumor Cells, Cultured
  • bcl-2-Associated X Protein

Substances

  • BAX protein, human
  • Culture Media, Serum-Free
  • DNA, Complementary
  • Membrane Proteins
  • Nerve Tissue Proteins
  • PSEN2 protein, human
  • Presenilin-2
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-bcl-2
  • bcl-2-Associated X Protein
  • L-Lactate Dehydrogenase
  • CASP3 protein, human
  • Caspase 3
  • Caspases