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

NM Badders, A Korff, HC Miranda, PK Vuppala… - Nature medicine, 2018 - nature.com
NM Badders, A Korff, HC Miranda, PK Vuppala, RB Smith, BJ Winborn, ER Quemin…
Nature medicine, 2018nature.com
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 …
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.
nature.com