Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia

This study investigates the role of microglia, the resident immune cells of the central nervous system (CNS), in Friedreich's ataxia (FRDA), a rare genetic disorder caused by mutations in the frataxin (FXN) gene. Using the KIKO mouse model of FRDA, researchers analyzed microglial cells from the cerebellum, the most affected region in FRDA. KIKO microglia showed distinct morphological and functional differences compared to wild-type (WT) microglia, including reduced motility, increased phagocytosis, and impaired mitochondrial function. Transcriptomic analysis revealed changes in gene expression related to inflammation and mitochondrial activity. The study suggests that dysfunctional microglia contribute to neuronal degeneration in FRDA, highlighting potential therapeutic targets for this neurodegenerative disease.