Investigation Of Ppt1 And Other Lysosomal Storage Disease Genes During Drosophila Neurogenesis

Infantile Neuronal Ceroid Lipofuscinoses (INCL) is a lysosomal storage disease caused by a defect in the Palmitoyl Protein Thioesterase 1 (PPT1) protein. Studies showed that the Drosophila ortholog, Ppt1, is essential for proper embryonic neurogenesis. Without Ppt1, flies exhibit defects in neuronal precursor cell fates, axon misrouting and fasciculation. This study extends the analysis by examining the role of other lysosomal storage disease genes during Drosophila neurogenesis, namely Palmitoyl Protein Thioesterase 2, Blue Cheese, Spinster, and Cathepsin D. Additionally, flies carrying mutations in these genes were individually crossed into the Ppt1 knockout background in order to investigate whether they genetically interact with Ppt1. Results from these experiments with regards to cell fate specification, axon guidance and fasciculation will be presented.