Mutations in CHMP2B Causes Impaired Autophagy and Distorted Energy Metabolism cumulating in Reactive Astrocyte Phenotypes

CHMP2B mutant astrocytes revealed an accumulation of autophagosomes, which trigger the observed astrocyte reactivity leading to increased cytokine release, altered mitochondria dynamics and metabolic changes. In order to investigate the astrocyte specific impact of mutated CHMP2B we differentiated human induced pluripotent stem cells (hiPSCs) from FTD3 patients and their CRISPR/Cas9 gene edited isogenic controls.