Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

C Milioto, A Malena, E Maino, MJ Polanco… - Scientific Reports, 2017 - nature.com
C Milioto, A Malena, E Maino, MJ Polanco, C Marchioretti, D Borgia, MG Pereira, B Blaauw…
Scientific Reports, 2017nature.com
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by
the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in
the gene coding for androgen receptor (AR). Expression of polyglutamine-expanded AR
causes damage to motor neurons and skeletal muscle cells. Here we investigated the effect
of β-agonist stimulation in SBMA myotube cells derived from mice and patients, and in knock-
in mice. We show that treatment of myotubes expressing polyglutamine-expanded AR with …
Abstract
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR). Expression of polyglutamine-expanded AR causes damage to motor neurons and skeletal muscle cells. Here we investigated the effect of β-agonist stimulation in SBMA myotube cells derived from mice and patients, and in knock-in mice. We show that treatment of myotubes expressing polyglutamine-expanded AR with the β-agonist clenbuterol increases their size. Clenbuterol activated the phosphatidylinositol-3-kinase (PI3K)/Akt/mechanistic target of rapamycin (mTOR) pathway and decreased the accumulation of polyglutamine-expanded AR. Treatment of SBMA knock-in mice with clenbuterol, which was started at disease onset, ameliorated motor function and extended survival. Clenbuterol improved muscle pathology, attenuated the glycolytic-to-oxidative metabolic alterations occurring in SBMA muscles and induced hypertrophy of both glycolytic and oxidative fibers. These results indicate that β-agonist stimulation is a novel therapeutic strategy for SBMA.
nature.com