Learning, memory and perception rely on an intricate network of proteins that orchestrate higher cognitive functions of the human brain. An important biological process regulating the function of these molecules is protein synthesis, also termed translation. Dysregulation of translation leads to pathological conditions such as Fragile X syndrome, Tuberous Sclerosis and PTEN hamartoma syndrome, all single-gene disorders with high rates of autism. A key molecule regulating protein synthesis is mTOR (mammalian Target of Rapamycin), which acts as a "sensor" of nutrients, environmental stimuli, growth factors and energy levels helping to regulate cell growth, proliferation and survival. mTOR inhibitors such as the FDA approved drug rapamycin, are widely used in the treatment of transplant rejection and cancer. The role of mTOR in memory formation and in diseases of the nervous system is still elusive. We will use advanced genetic mouse models of mTOR and its associated proteins to study the role of mTOR pathway in memory formation and autism. Knowledge gained from this project has the potential to direct treatment strategies targeting this pathway in patients with memory deficits and also to propose therapies to alleviate the cognitive and neurological symptoms associated with Autism Spectrum Disorders (ASD). Further understanding of this molecular pathway can have a strong impact on the design of prophylactic and post-diagnosis treatments for patients in Canada and worldwide.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
