An interdomain interaction of the androgen receptor is required for its aggregation and toxicity in spinal and bulbar muscular atrophy

J Biol Chem. 2010 Nov 12;285(46):35567-77. doi: 10.1074/jbc.M110.146845. Epub 2010 Sep 8.

Abstract

Polyglutamine expansion within the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA) and is associated with misfolded and aggregated species of the mutant AR. We showed previously that nuclear localization of the mutant AR was necessary but not sufficient for SBMA. Here we show that an interdomain interaction of the AR that is central to its function within the nucleus is required for AR aggregation and toxicity. Ligands that prevent the interaction between the amino-terminal FXXLF motif and carboxyl-terminal AF-2 domain (N/C interaction) prevented toxicity and AR aggregation in an SBMA cell model and rescued primary SBMA motor neurons from 5α-dihydrotestosterone-induced toxicity. Moreover, genetic mutation of the FXXLF motif prevented AR aggregation and 5α-dihydrotestosterone toxicity. Finally, selective androgen receptor modulators, which prevent the N/C interaction, ameliorated AR aggregation and toxicity while maintaining AR function, highlighting a novel therapeutic strategy to prevent the SBMA phenotype while retaining AR transcriptional function.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Motifs / genetics
  • Amino Acid Sequence
  • Androgen Antagonists / pharmacology
  • Androgens / pharmacology
  • Anilides / pharmacology
  • Animals
  • Binding Sites / genetics
  • Blotting, Western
  • Bulbo-Spinal Atrophy, X-Linked / genetics
  • Bulbo-Spinal Atrophy, X-Linked / metabolism
  • Bulbo-Spinal Atrophy, X-Linked / pathology
  • Cells, Cultured
  • Dihydrotestosterone / pharmacology
  • HEK293 Cells
  • Humans
  • Mice
  • Mice, Transgenic
  • Microscopy, Fluorescence
  • Motor Neurons / cytology
  • Motor Neurons / metabolism
  • Mutation*
  • Nitriles / pharmacology
  • PC12 Cells
  • Protein Binding / drug effects
  • Rats
  • Receptors, Androgen / chemistry
  • Receptors, Androgen / genetics*
  • Receptors, Androgen / metabolism*
  • Testosterone / pharmacology
  • Tosyl Compounds / pharmacology
  • Trinucleotide Repeat Expansion / genetics*
  • Two-Hybrid System Techniques

Substances

  • Androgen Antagonists
  • Androgens
  • Anilides
  • Nitriles
  • Receptors, Androgen
  • Tosyl Compounds
  • Dihydrotestosterone
  • Testosterone
  • bicalutamide