Nuclear DNA damage is a primary driver of mitochondrial dysfunction in C9ORF72 ALS/FTD
Mara Zilocchi, Illari Salvatori, Silvia Lombardi, Roland Nicsanu, Alice Campana, Roman Shaposhnikov, Gabriella Gualtieri, Silvia Scaricamazza, Cristiana Valle, Alberto Ferri, Silvia M.L. Barabino
This study shows that nuclear DNA damage directly causes mitochondrial dysfunction in C9ORF72 ALS/FTD by triggering a DNA damage response that depletes NAD+ and impairs mitochondrial bioenergetics.
bioRxiv · May 21, 2026 · PreprintCell Biology