NEURAL-SPECIFIC ALTERATIONS IN GLYCOSYLATION AND CELL SIGNALING ASSOCIATED WITH TWO NEUROLOGICAL DISEASES.

Neurological diseases consist of any disorder that affects the nervous system. Despite being two very different neurological diseases, GM3 Synthase Deficiency (GM3SD) and Alzheimer’s Disease (AD) both cause detrimental consequences and symptoms to the body and nervous system. Individuals with GM3SD display seizure activity, hypo- or hyper- pigmented skin as well as cognitive, developmental, psychomotor, speech and hearing impairments. AD is much more common than GM3SD and presents itself in individuals much later in life. These patients experience cognitive impairment and difficulties deciphering spatial relationships. Despite these key differences both diseases share similarities in cellular stress and death. Using patient-derived induced pluripotent stem cells and derived neural crest cells we observe that changes in protein O-GlcNAcylation a post translational modification can cause stress but can also rescue the cell from stress induced by disease pathology.