AnnaMari Stump

AnnaMari Stump

Sphingolipid metabolism dysregulation in neurodegenerative diseases

Advisor: Derek Prosser, Ph.D., Department of Biology

Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disorder that impairs the central nervous system through both upper and lower motor neuron degeneration. ALS impacts 5 per 100,000 people and results in death between 3-5 years after diagnosis. ALS has both genetic and environmental factors, the focus of my work is on VAPB, a gene which has a mutation causative of ALS8. VAPB is conserved through evolution with a homolog in yeast SCS2, SCS22 both homologs play key roles in ER structure and function, defects in VAPB lead to protein misfolding causing cellular transport dysfunction and aggregation to occur. Our lab has capitalized on those features by making a yeast model of ALS8 that recapitulates the same phenotype and preformed a genetic screen to identity suppressors of ALS8, three genes involved in sphingolipid biosynthesis were identified. My work involves studying roles of lipid regulation in ALS.