Functional transcriptome analysis in arsacs ko cell model reveals a role of sacsin in autophagy

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare, early-onset neurological disease caused by mutations in SACS, encoding sacsin. We used the CRISPR/Cas9 editing technology to generate a sacsin KO cell line in SH-SY5Y neuroblastoma cells. RNA-seq transcriptome analysis was used to generate a whole-genome molecular signature profile. Using data analysis, we identified biological processes significantly disrupted due to loss of sacsin, and suggest that chemical manipulation of these pathways might represent a new target to delay the processes of neurodegeneration in ARSACS