[PDF][PDF] Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy

AP Lieberman, Z Yu, S Murray, R Peralta, A Low… - Cell reports, 2014 - cell.com
AP Lieberman, Z Yu, S Murray, R Peralta, A Low, S Guo, XX Yu, CJ Cortes, CF Bennett
Cell reports, 2014cell.com
Spinal and bulbar muscular atrophy (SBMA) is caused by the polyglutamine androgen
receptor (polyQ-AR), a protein expressed by both lower motor neurons and skeletal muscle.
Although viewed as a motor neuronopathy, data from patients and mouse models suggest
that muscle contributes to disease pathogenesis. Here, we tested this hypothesis using
AR113Q knockin and human bacterial artificial chromosome/clone (BAC) transgenic mice
that express the full-length polyQ-AR and display androgen-dependent weakness, muscle …
Summary
Spinal and bulbar muscular atrophy (SBMA) is caused by the polyglutamine androgen receptor (polyQ-AR), a protein expressed by both lower motor neurons and skeletal muscle. Although viewed as a motor neuronopathy, data from patients and mouse models suggest that muscle contributes to disease pathogenesis. Here, we tested this hypothesis using AR113Q knockin and human bacterial artificial chromosome/clone (BAC) transgenic mice that express the full-length polyQ-AR and display androgen-dependent weakness, muscle atrophy, and early death. We developed antisense oligonucleotides that suppressed AR gene expression in the periphery but not the CNS after subcutaneous administration. Suppression of polyQ-AR in the periphery rescued deficits in muscle weight, fiber size, and grip strength, reversed changes in muscle gene expression, and extended the lifespan of mutant males. We conclude that polyQ-AR expression in the periphery is an important contributor to pathology in SBMA mice and that peripheral administration of therapeutics should be explored for SBMA patients.
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