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

脊髓延髓肌萎缩症（Spinal and bulbar muscular atrophy, SBMA）是一类由雄激素受体（androgen receptor, AR）基因携带多聚谷氨酰胺扩增突变所引发的神经肌肉疾病。本研究对比了SBMA肌细胞模型（AR-97Q细胞）与对照模型（AR-24Q细胞）之间的转录组差异。通过RNA测序（RNA-seq）基因表达分析发现，差异表达基因与转化生长因子β（transforming growth factor β, TGFβ）信号通路、丝裂原活化蛋白激酶（mitogen-activated protein kinase, MAPK）、肿瘤坏死因子（tumor necrosis factor, TNF）信号通路、钙信号通路以及核因子κB（NFκB）信号通路的上调显著相关。实验整体设计：对C2C12细胞进行基因工程修饰，使其稳定表达携带24个或97个多聚谷氨酰胺重复序列的全长人雄激素受体，分别构建得到AR-24Q细胞与AR-97Q细胞系。