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Probing the Molecular Mechanisms Underlying Autism: Examination of Dysregulated Protein Synthesis

City: 
Bethesda
State/Province: 
MD
State/Province Full: 
Maryland
Country: 
United States

Though the cause of autism is unknown, current evidence suggests that brain cell dysfunction may contribute to its onset and progression. One theory asserts that disturbances in brain protein levels may diminish the communication of brain cells. Proteins are essential for carrying out most cellular functions, and the levels of specific proteins can dictate whether the brain operates normally. These investigators have developed a novel method for measuring the rate at which proteins are produced in the brains of living animals. This project will use this technique to measure the rate of protein production in the brains of mice with autistic-like behaviors. These studies have the potential to improve the understanding of the pathways that cause autism and how various treatments may reverse these symptoms. Since autism is a complex disorder, identifying a mouse model is challenging. One tactic is to use mouse models of inherited disorders in which autism is a symptom. Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes autism in about half of the patients. Previous work has shown that a mouse model of TSC has social interaction deficits. Additionally, earlier work showed that treating these mice with rapamycin, a drug that blocks a key controller of protein production, reversed social behavior deficits. Therefore, this project will examine the rate of brain protein production in TSC mice with and without rapamycin treatment. It is expected that mice with TSC will have higher levels of brain protein production compared to normal mice and that rapamycin will cause protein production to return to normal. The method for measuring the rates of protein production has also been adapted for use in human subjects with brain imaging techniques. This method will be used to study patients with TSC following the work on mouse models of autism. The research training in animal models and in human patient with these disorders will provide valuable experience in translational science.