Date of Award
Union College Only
Bachelor of Science
ppt1, mutant, sak, spinster, abnormalities
Infantile Neuronal Ceroid Lipofuscinoses (INCL) is a lysosomal storage disease caused by a defect in the Palmitoyl Protein Thioesterase 1 (PPT1) protein. Studies have shown 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 this analysis by examining the role of other lysosomal storage disease genes during Drosophila neurogenesis, namely SAK, palmitoyl protein thioesterase 2, and spinster. Flies carrying mutations in these genes were individually crossed into the Ppt1 knockout background in order to investigate whether they genetically interact with Ppt1. Embryos from the mutant strains and crosses were stained with αBP102 using a 2-day immunohistochemistry protocol and digital images were taken of well-stained stage 16 embryos. Embryonic neurogenesis was analyzed in each embryo to determine whether mutations in SAK, Ppt2, or spinster disrupted nervous system development and/or interacted genetically with Ppt1. Fly strains mutant for SAK, Ppt2, and spinster exhibited abnormalities in nervous system development. When SAK was crossed into the Ppt1-mutant background, abnormalities increased; when spinster was crossed in the Ppt1-mutant background, abnormalities significantly decreased.
Blanchette, Cassandra R., "Investigation of Ppt1 and other lysosomal storage disease genes during drosophila neurogenesis" (2009). Honors Theses. 1266.