"Drosophila as a Model for Batten Disease"
Christopher A. Korey, College of Charleston, Charleston SC 29424

The most common of the pediatric neurodegenerative diseases (1 in 12,500) are a set of lysosomal storage disorders termed Neuronal Ceroid Lipofuscinoses (NCLs). Infantile onset NCL (INCL) is the earliest and most severe form with symptoms that include loss of vision, motor dysfunction, intellectual decline, and seizures due to massive neurodegeneration in the CNS and retina. INCL is caused by mutations in palmitoyl-protein thioesterase 1 (Ppt1), suggesting that there is an important role for the regulation of palmitoylation in normal neuronal function. While recent work is beginning to shed light on the protein's localization and function, there is still little understanding of the role Ppt1 plays in neuronal cells. We will employ a genetic modifier screen in Drosophila using a visual system degeneration phenotype to further elucidate Ppt1's cellular function. This will have consequences not only for identification of possible therapeutic strategies, but it will also begin to identify possible functions of Ppt1 in neural apoptosis, signal modulation at the synapse, and membrane and protein trafficking.

Christopher A. Korey, Ph.D.
Assistant Professor of Biology
College of Charleston
66 George Street
Charleston, SC 29424
Phone: (843) 953-7178
Fax: (843) 953-5453