RNA-Seq results of a neuronal cell model of SBMA, AR-97Q cells, compared to AR-24Q cells

Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by a polyglutamine expansion in the androgen receptor (AR). Transcriptional changes were compared between a muscle cell model of SBMA (AR-97Q cells) and a control model (AR-24Q cells). RNA-seq gene expression analysis revealed that differentially expressed genes were associated with upregulation of transforming growth factor β (TGFβ) signaling, mitogen-activated protein kinase (MAPK), tumor necrosis factor (TNF) signaling, calcium signaling, and NFκB signaling. C2C12 AR-24Q cells and AR-97Q cells were genetically modified to stably express full-length human AR with 24 or 97 poly-glutamine repeats.