In 2012, Alzheimer’s Research UK funding helped scientists make a major genetic breakthrough. They discovered a change in the DNA code of a gene called TREM2. People with this change have a three-fold higher risk of Alzheimer’s. TREM2 appears to play a role in controlling immune cells in the brain called microglia. Scientists suspect that TREM2 affects the ability of microglia to ‘eat up’ dangerous build-ups of the hallmark Alzheimer’s protein amyloid, and causes them to trigger an excessive immune response that could harm nerve cells. Dr Garcia Reitboeck will test this theory, and provide important clues to how to stop damage in the brain in Alzheimer’s.
Genetic discoveries like that of TREM2 are vital for helping researchers to understand the causes of diseases like Alzheimer’s. However, these discoveries must be followed up to identify the processes important in Alzheimer’s. These processes often provide new targets for treatments that could stop the disease and improve the lives of those affected.
Having one faulty version of the TREM2 gene puts people at higher risk of Alzheimer’s, but having two faulty versions causes a rare inherited early-onset dementia called Nasu-Hakola disease. To better understand how these changes in TREM2 affect microglia cells, Dr Garcia Reitboeck has collected skin cells both from people with Nasu-Hakola disease and people with Alzheimer’s, who have one copy of the faulty TREM2 gene.
Using innovative stem cell techniques the team will turn the skin cells into microglia. To see what effect the TREM2 variant has on the microglia, the team will employ a high-tech imaging system that allows them to monitor the biology inside individual cells.
Dr Pablo Garcia Reitboeck
University College London
4 February 2015 - 3 February 2018
Full project name
Investigating the role of the microglial receptor TREM2 in Alzheimer's disease