37th Annual Student Research Conference
Motor system dysfunction in a Drosophila model of amyotrophic lateral sclerosis caused by a c9ORF72 mutation
Sarah G. Simons*, Kayla J. Cunningham, and Breyton A. Osburn
Dr. Brett A. Berke, Faculty Mentor
Motoneuronal cell death in amyotrophic lateral sclerosis (ALS) is associated with mutations affecting the chromosome 9 open reading frame 72 (c9ORF72) gene. c9ORF72 mutations produce toxic proteins, which disrupt protein transport across the nuclear membrane and alter neuronal connections (synapses). We hypothesize that the blockade of nuclear transport in motoneurons causes synaptic defects with impacts on animal behavior. To test this, we are tracking the nuclear transport of a key synapse-organizing protein while also measuring synaptic size and crawling behavior in Drosophila larvae. Using a fluorescent tag on this protein, we observed that c9ORF72 mutations prevent its nuclear localization and reduce the size of neuromuscular synapses. The same c9ORF72 mutants are being studied for changes in the larval body contraction during crawling. As ALS predominantly affects motoneurons, we are also beginning to examine whether the mutations similarly affect development of non-motoneurons.
Keywords: Drosophila melanogaster, ALS, c9orf72, cell death
Topic(s):Biology
Presentation Type: Oral Presentation
Session: 405-2
Location: MG 2001
Time: 2:15