"Alzheimer's Risk Elevated by Mutation in Brain's Immune Cells"
A genetic mutation known as TREM2 R47H/+ has been found to increase the risk of Alzheimer's disease up to threefold by impairing the function of microglia, the brain's immune cells. The mutation leads to inflammation, reduced debris clearance, impaired response to neuronal injury, and excessive synapse pruning. Researchers used stem cell models to study the effects of the mutation and found that mutant microglia exhibited a proinflammatory gene expression signature, impaired movement and uptake of substances, and hyperresponsiveness to inflammation. Transplanting mutant microglia into mice resulted in reduced synaptic density, suggesting inappropriate synaptic pruning as a potential mechanism. The study provides insights into the molecular mechanisms underlying microglial dysfunction and potential therapeutic targets for Alzheimer's disease.
