Exploiting Time-Specific Frataxin Inactivation to Unravel Its Role in Peripheral Neurodegeneration in Friedreich Ataxia

Dr. Agostina Di Pizio’s project will investigate how frataxin deficiency contributes to degeneration of sensory neurons in Friedreich’s ataxia (FA). Using a mouse model where frataxin can be inactivated at specific postnatal stages and human dorsal root ganglia (DRG) organoids derived from patient stem cells, the study will examine critical periods of neuronal growth and maturation. Preliminary results indicate that frataxin is essential for proper cytoskeletal organization and early neuronal development. The team is exploring strategies to correct these defects, including the compound microtubule targeting agent which appears to restore cytoskeletal changes and improve survival in the mouse model. This research could identify new therapeutic approaches to protect neurons and slow disease progression in FA.