Differential expression of PSMD5-AS1 in amyotrophic lateral sclerosis.

Abstract: Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2). We harnessed the power of unbiased, whole transcriptome differential gene expression analysis, utilizing primary patient cells and tissues to discover genes whose expression defines ALS using published and public data (3, 4). We found significant differential expression of PSMD15-AS1, encoding PSMD5 antisense RNA 1, in induced pluripotent stem cell (iPSC)-derived motor neurons from patients with ALS. Analysis of a second public microarray dataset demonstrated that PSMD15-AS1 differential expression in iPSC-derived motor neurons was a conserved feature in humans with ALS. PSMD15-AS1 transcript was present at significantly higher levels in ALS patient motor neurons as compared to control motor neurons. These analyses will begin to define the transcriptional landscape of ALS.