Gene linked to Alzheimer's disease is involved in neuronal communication

Dr. Joshua Shulman, associate professor of neurology at Baylor and corresponding author of the work, explains that they first worked with the laboratory fruit fly to test the effect of deleting the gene in the brain. The team deleted the fly equivalent of the human CD2AP gene, called cindr, and observed evidence of defective synapse structure and function. They also found that certain proteins accumulated more in the synapses of mutant flies. Among the accumulated proteins were several that regulate neural communication. To connect these findings with Alzheimer's disease, Shulman and his colleagues also studied a mouse in which the CD2AP gene was deleted and discovered brain changes similar to those they had found in flies. Finally, in order to establish relevance for humans, they examined a collection of more than 800 brain autopsies. Shulman and colleagues found that low CD2AP levels significantly correlated with abnormal turnover of synaptic proteins, and this relationship was enhanced in the setting of Alzheimer's disease.