38th Annual Student Research Conference
Nuclear transport defects caused by an ALS mutation in Drosophila
Andrew J. Schroeder
Dr. Brett A Berke, Faculty Mentor
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motoneurons, leading to muscle cell death and paralysis. Motoneuron loss in ALS is associated with mutations in the c9ORF72 gene. These mutations produce toxic proteins that disrupt the transport of material into motoneuron nuclei. The toxic proteins cause a physical blockade or alter nucleoporin expression (nuclear pore molecules) to block transport. We hypothesize that blocking the transport of a growth factor molecule (which supports healthy cells) into motoneuron nuclei causes defects in connections between motoneurons and their target muscles. To test this, we tracked the nuclear transport of a fluorescently-tagged growth factor that is released from muscles of Drosophila larvae. c9ORF72 mutations prevented the nuclear localization of this growth factor and reduced the size of neuromuscular connections. This correlation suggests that lack of growth factor signaling in motoneurons may cause the changes seen in ALS.
Keywords: Drosophila, C9ORF72, ALS, Cell Death
Topic(s):Biology
Presentation Type: Oral Presentation
Session: 107-4
Location: MG 2001
Time: 9:30