Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity

J Biol Chem. 1999 Mar 26;274(13):8730-6. doi: 10.1074/jbc.274.13.8730.

Abstract

Dentatorubropallidoluysian atrophy (DRPLA) is one of eight autosomal dominant neurodegenerative disorders characterized by an abnormal CAG repeat expansion which results in the expression of a protein with a polyglutamine stretch of excessive length. We have reported recently that four of the gene products (huntingtin, atrophin-1 (DRPLA), ataxin-3, and androgen receptor) associated with these open reading frame triplet repeat expansions are substrates for the cysteine protease cell death executioners, the caspases. This led us to hypothesize that caspase cleavage of these proteins may represent a common step in the pathogenesis of each of these four neurodegenerative diseases. Here we present evidence that caspase cleavage of atrophin-1 modulates cytotoxicity and aggregate formation. Cleavage of atrophin-1 at Asp109 by caspases is critical for cytotoxicity because a mutant atrophin-1 that is resistant to caspase cleavage is associated with significantly decreased toxicity. Further, the altered cellular localization within the nucleus and aggregate formation associated with the expanded form of atrophin-1 are completely suppressed by mutation of the caspase cleavage site at Asp109. These results provide support for the toxic fragment hypothesis whereby cleavage of atrophin-1 by caspases may be an important step in the pathogenesis of DRPLA. Therefore, inhibiting caspase cleavage of the polyglutamine-containing proteins may be a feasible therapeutic strategy to prevent cell death.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Apoptosis / genetics
  • Atrophy / genetics
  • Caspase 3
  • Caspases / metabolism*
  • Cell Line
  • Fluorescent Antibody Technique
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Nerve Tissue Proteins / toxicity
  • Peptides / genetics
  • Protein Conformation
  • Tamoxifen / pharmacology
  • Transfection
  • Trinucleotide Repeats / genetics

Substances

  • Nerve Tissue Proteins
  • Peptides
  • atrophin-1
  • Tamoxifen
  • polyglutamine
  • CASP3 protein, human
  • Caspase 3
  • Caspases