39th Annual Student Research Conference
Effects of C9ORF72 mutations in motoneurons of Drosophila larvae
Genevieve R. Hunter*, Ayden B. Cockrill, and Andrew J. Schroeder
Dr. Brett A. Berke, Faculty Mentor
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motoneurons, causing paralysis and early death. Motoneuron dysfunction in ALS is associated with mutations of the C9ORF72 gene, whose toxic proteins disrupt the transport of molecules into and out of the nucleus. We hypothesize that without access to the nucleus, growth-stimulating molecules may not promote the development of connections (synapses) between motoneurons and target muscles. We are testing this hypothesis at Drosophila larval neuromuscular synapses by 1) tracking the nuclear transport of a growth-stimulating molecule (pMAD), 2) measuring neuromuscular synapse size, and 3) analyzing larval crawling behavior. C9ORF72 mutations significantly decreased pMAD’s nuclear localization, reduced the size of neuromuscular synapses, and may impact the muscle contractions that mediate crawling behavior. These findings support the idea that a lack of growth stimulation due to C9ORF72 mutations can weaken synapses and, potentially, disrupt motor function, leading to the presentation of ALS.
Keywords: Drosophila, C9ORF72, movement, synapse, nuclear transport, ALS, neurodegeneration
Topic(s):Biology
Presentation Type: Oral Presentation
Session: TBA
Location: TBA
Time: TBA