36th Annual Student Research Conference
Double Trouble! A Fruit Fly Model of Two ALS-Linked Genes
Anna Cernich*, Sarah G. Simons, and Kayla Cunningham
Dr. Brett A. Berke, Faculty Mentor
Motoneuronal cell death in human patients and fly models of ALS is commonly associated with mutations affecting the C9ORF72 and SOD1 genes. The loss of superoxide dismutase 1 (SOD1) causes oxidative stress in all neurons, yet motoneurons are preferentially affected. We hypothesize that a synergy between multiple stressors causes motoneuron-specific death. In support of this, we observe that SOD1 mutant flies exposed to additional stressors exhibit reduced lifespan and an early appearance of cell death markers. Mutations in the chromosome 9 open reading frame 72 (C9ORF72) gene produce toxic dipeptide repeat proteins, which impede nuclear transport and alter synapse formation. We are examining whether C9ORF72 mutations block the nuclear transport of a transcription factor that coordinates synapse development, potentially explaining the changes to synaptic size and motoneuron death. Lastly, SOD1 mutations alter larval crawling behavior, so we are testing C9ORF72 mutant larvae for similar behavioral changes.
Keywords: Drosophila melanogaster, ALS, C9ORF72, SOD1, cell death
Topic(s):Biology
Presentation Type: Oral Presentation
Session: 108-5
Location: MG 1000
Time: 9:30