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 EMC10, encoding ER membrane protein complex subunit 10, in the motor neurons of patients with ALS. EMC10 was also differentially expressed in the induced pluripotent stem cell (iPSC)-derived motor neurons of patients with ALS. EMC10 transcript was present at significantly lower levels in ALS patient motor neurons as compared to control motor neurons. These analyses will begin to define the transcriptional landscape of ALS.
Journal Link: 10.31219/osf.io/qv5xa Journal Link: Publisher Website Journal Link: Google Scholar