Comparing the cerebellar transcriptome of Sacs KO versus WT mice

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS gene encoding sacsin. ARSACS patients and mouse models display early degeneration of cerebellum in agreement with high sacsin expression in this organ. We performed unbiased transcriptomic of cerebella from Sacs KO mice versus controls to dissect the mechanisms underlying cerebellar degeneration in ARSACS. Cerebella derived from 5 Sacs KO versus 5 WT littermates at 5 months of age.沙勒-萨格奈常染色体隐性痉挛性共济失调（Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, ARSACS）是由编码sacsin蛋白的SACS基因突变所引发的遗传性疾病。ARSACS患者及对应的小鼠模型均表现出小脑早期退行性病变，这与该脑组织中sacsin的高表达水平相一致。为解析ARSACS中小脑退行性病变的潜在分子机制，本研究对5月龄的5只Sacs基因敲除（Sacs KO）小鼠与5只同窝野生型（WT）幼鼠的小脑组织开展了无偏转录组学分析。