938-C9orf72 Repeat Expansions Impair Microglial in ALS

Paper Talk · May 9, 2026 · 19m

This study examines how the C9orf72 gene mutation affects the immune response in the central nervous system of patients with amyotrophic lateral sclerosis (ALS). By comparing genetic and sporadic forms of the disease, researchers discovered that the C9orf72 mutation causes haploinsufficiency, which prevents microglia from transitioning into necessary reactive and protective states. Unlike sporadic ALS, where these immune cells successfully activate, mutated microglia show significant defects in endolysosomal pathways and waste degradation. The research further indicates that astrocytes also…