Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy

Nat Med. 2018 May;24(4):427-437. doi: 10.1038/nm.4500. Epub 2018 Mar 5.

Abstract

Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by toxic gain of function of the androgen receptor (AR). Previously, we found that co-regulator binding through the activation function-2 (AF2) domain of AR is essential for pathogenesis, suggesting that AF2 may be a potential drug target for selective modulation of toxic AR activity. We screened previously identified AF2 modulators for their ability to rescue toxicity in a Drosophila model of SBMA. We identified two compounds, tolfenamic acid (TA) and 1-[2-(4-methylphenoxy)ethyl]-2-[(2-phenoxyethyl)sulfanyl]-1H-benzimidazole (MEPB), as top candidates for rescuing lethality, locomotor function and neuromuscular junction defects in SBMA flies. Pharmacokinetic analyses in mice revealed a more favorable bioavailability and tissue retention of MEPB compared with TA in muscle, brain and spinal cord. In a preclinical trial in a new mouse model of SBMA, MEPB treatment yielded a dose-dependent rescue from loss of body weight, rotarod activity and grip strength. In addition, MEPB ameliorated neuronal loss, neurogenic atrophy and testicular atrophy, validating AF2 modulation as a potent androgen-sparing strategy for SBMA therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Benzimidazoles / pharmacology
  • Benzimidazoles / therapeutic use
  • Co-Repressor Proteins / metabolism
  • Disease Models, Animal
  • Drosophila melanogaster
  • HEK293 Cells
  • Humans
  • Male
  • Mice, Transgenic
  • Muscular Atrophy, Spinal / drug therapy
  • Muscular Atrophy, Spinal / pathology*
  • Nerve Degeneration / drug therapy
  • Nerve Degeneration / pathology*
  • Phenotype
  • Pilot Projects
  • Protein Domains
  • Receptors, Androgen / chemistry*
  • Receptors, Androgen / metabolism*
  • Trinucleotide Repeat Expansion / genetics
  • ortho-Aminobenzoates / pharmacology
  • ortho-Aminobenzoates / therapeutic use

Substances

  • AR protein, human
  • Benzimidazoles
  • Co-Repressor Proteins
  • Receptors, Androgen
  • ortho-Aminobenzoates
  • tolfenamic acid