Identifying and treating SORL1-associated Alzheimer’s disease

The majority of the risk to develop Alzheimer's disease is influenced by genetic factors. We previously found that carrying a genetic mutation in the SORL1 gene can lead to a greatly increased chance of developing Alzheimer's Disease. SORL1 is involved in the production and processing of Alzheimer proteins that accumulate in the brain. e have identified mutations in this gene that are predicted to impair SORL1 protein function, but there are also harmless mutations. Unfortunately, accurate prediction of the effect of a specific SORL1 mutation on disease risk is difficult. However, for AD patients who carry a mutation in the SORL1 gene or their family members, it is of great importance to know whether the mutation they carry is associated with increased AD risk. The aim of this project is to investigate the effect of SORL1-mutations on the production and accumulation of Alzheimer proteins in the patient brain. Second, we will investigate whether we can identify medications that can counteract these harmful effects. With this research we hope to contribute to a selective treatment strategy for SORL1-mutation carriers, in order to postpone or to escape the onset of SORL1-associated AD.