Friday, November 17, 2023

Mutation in Cells Linked to Alzheimer's Risk

     There is a rare but potent genetic mutation that causes a protein located in the brain's immune cells, which are called microglia. This mutation can give individuals up to three times of a greater risk of acquiring or developing Alzheimer's disease. They label this mutation as TREM2 R47H/+ and study it further. They found that TREM2 R47H/+ has a proinflammatory gene expression signature, can cause impairments in the movements of microglia and the uptake of various substrates, and rendering microglia hyper responsive to inflammatory stimuli. They further studied this one mice by implanting them with the TREM2 R47H/+. After their findings a number of detrimental effects from the TREM2 R47H/+ mutation on microglial gene and function are most likely to underlie the mutation's association with Alzheimer's Disease. 


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