BOOSTING AUTOPHAGY AS A THERAPEUTIC STRATEGY TO TREAT TBC1D24 EPILEPSY
Awardee: Anna Fassio
Institution: University of Genoa
Grant Amount: $103,546.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
TBC1D24 has been described by our group and others to play different roles in the brain, however it is not immediate to translate this knowledge in a therapeutic strategy to treat individuals bearing TBC1D24 mutations. We recently identified a degradative cellular process, named autophagy, to be dysfunctional in neuronal cells upon loss of TBC1D24 function. Autophagy is a multistep process responsible for the removal of superfluous or dysfunctional cell components, and it is essential to guarantee neuronal health. Autophagy can be activated by different compounds, and research on small drugs acting on this process is ongoing both in the field of tumors and neurodegenerative diseases. We hypothesize that the use of these new compounds is effective in reverting the autophagy impairment and ameliorates the epileptic phenotype in TBC1D24 patients.