Molecular mechanisms of aberrant synaptogenesis
Genetic studies in autism have linked genes which encode synaptic adhesion molecules to autism. The proper expression of these genes control how neurons form new connections with each other as well as strengthen existing connections, a process called “synaptogenesis”. Together with neuropathological evidence which indicates deficits in neuronal signaling in autism, an abnormality in synaptogenesis may underlie many behavioral and neuroanatomical features of autism. As both genetic and environmental influences have been implicated in the cause of autism, it is important to understand how these factors influence synaptogenesis independently and how they may interact. Dr. Penzes will apply his expertise as a neurobiologist to study the interaction of two molecules which control synaptogenesis, called ephrin and Eph, interact with one another and how they are influenced by environmental stimulation. What this means for people with autism: Dr. Penzes's laboratory has identified one of the few known molecular mechanisms to regulate dendritic spine density. As such, the interaction of these pathways is a promising candidate for understanding the etiology of autism on a cellular level. Most important, if Dr. Penzes and colleagues are able to demonstrate inhibition of these pathways by drugs, this would represent a treatment that could potentially prevent or mitigate the effects of autism.