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 sporadic ALS using published data (3, 4). We found significant differential expression of HEPH, encoding hephaestin, in induced pluripotent stem cell (iPSC)-derived motor neurons of patients with ALS. HEPH was also differentially expressed in primary motor neurons isolated from patients with ALS. HEPH transcript was present at significantly lower levels in ALS iPSC-derived motor neurons. These analyses will begin to define the transcriptional landscape of ALS.
Journal Link: 10.31219/osf.io/fvtx9 Journal Link: Publisher Website Journal Link: Google Scholar