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 DNAI2, encoding dynein axonemal intermediate chain 2, in induced pluripotent stem cell (iPSC)-derived motor neurons of patients with ALS. DNAI2 was also differentially expressed in primary motor neurons isolated from patients with ALS. DNAI2 transcript was present at 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/pr3qj Journal Link: Publisher Website Journal Link: Google Scholar