Actin-mediated regulation of organelle dynamics in Charcot-Marie-Tooth disease
https://reporter.nih.gov/search/k52jUHYbvUay11FXFkQtgw/project-details/10327608
Specifically, neurons derived from CMT patient fibroblasts and neurons from mice injected with AAVs directing expression of CMT- mutant INF2, MFN2, or RAB7A will be analyzed. Completion of these aims will provide mechanistic insight into the role of actin in organelle fission and mobility, how these processes are coupled, and test the novel hypothesis that CMT involves global disruption of mobility of multiple organelles. This will further our understanding of the pathogenic mechanism of CMT and perhaps other neurodegenerative disorders.
