Functional Characterization of GGA3 Mutations Associated with Alzheimer’s Disease

Neurons, highly organized brain cells, are characterized by specialized projections called dendrites and axons. The axon is the longest neuronal projection where proteins move like along a highway, in two different directions and at different speeds. Scientists demonstrated that in the brain of subjects affected by Alzheimer’s disease (AD), a disorder characterized by memory loss, this coordinate traffic doesn’t work properly, so neurons start to be unhealthy and die. Our goal is to try to understand why this traffic no longer is functioning in order to find a way to prevent the neuronal traffic disruption and possibly find a treatment for Alzheimer’s disease. The aim of this study is to determine the extent to which mutations in a trafficking molecule called GGA3 may lead to disruption of protein movements in the axon, ultimately causing neuronal death.