Differential expression of KMT5C 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 data (3, 4). We found significant differential expression of KMT5C, encoding lysine methyltransferase 5C, in the motor neurons of patients with ALS. KMT5C was also differentially expressed in induced pluripotent stem cell (iPSC)-derived motor neurons of patients with ALS. KMT5C 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.