The expression of genes encoding palmitoylated proteins in axonal and synaptic compartments is affected in CLN1/PPT1 transfected neuronal cells

CLN1 disease (OMIM #256730) is an early childhood ceroid-lipofuscinosis associated with mutated CLN1, whose product (PPT1) is a lysosomal enzyme involved in the removal of palmitate residues from S-acylated proteins. In neurons, PPT1 is also related to specific functions in the synaptic compartment. The aim of this study was to recognize molecular signatures and functional modules connected with CLN1. We utilized differentiated SH-SY5Y neuroblastoma cells to overexpress wild type CLN1 (SH-p.wtCLN1) and introduced selected mutations previously detected in CLN1 patients. wtCLN1 and two mutant CLN1- harbouring cell lines were characterized by whole transcriptomic profiling using RNA-seq, to subsequently identify differentially expressed genes (DEGs) and alterations in related neuronal functions. Overall design: Examination of transciptomic profiles of three transfected SH-SY5Y neuroblastoma cell lines, which over-expressed either wtCLN1 or two mutated CLN1 constructs