The Effects of Neurexin-1 Deficiency on Behavioural Phenotypes Relevant to Schizophrenia and Autism Spectrum Disorder

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Autism spectrum disorders (ASDs) and schizophrenia are forms of mental illness that have profound, long-term impacts on the very many who will be affected in their lifetimes. Both conditions are poorly treated, in part because we know little about the root causes. However, we do know that these illnesses can be inherited, suggesting that defective genes might be involved. This project looks at one particular gene neurexin 1alpha, which was recently discovered to be damaged in some ASD and schizophrenia patients. Working out how the faulty neurexin 1alpha gene might predispose to ASD and schizophrenia is difficult because we can?t ever do the necessary studies in patients. But it turns out that a strain of laboratory mouse also has a faulty neurexin 1alpha gene that mimics the gene defect in patients. So we will use these neurexin 1alpha mutant mice to try to learn more about the role of neurexin 1alpha in ASD and schizophrenia, which might give us clues to better treatments and prevention strategies in the future.Behavioural tests are the most appropriate for investigating the link between the faulty neurexin 1alpha gene and ASD and schizophrenia because abnormal behaviours are the primary symptoms of both disorders. While mental illnesses cannot be replicated in mice, specially-designed behavioural tests can detect behavioural abnormalities in mice that resemble human psychiatric symptoms. We will use this approach to identify the behavioural effects of the faulty neurexin 1alpha gene in mice.At the end of this project, we expect to have identified the ASD- and schizophrenia-related behavioural changes caused by the faulty neurexin 1alpha in mice, generated evidence to help us understand the link between neurexin 1alpha gene defects and mental illness in humans, and determined whether neurexin 1alpha mutant mice exhibit a resemblance to symptoms of ASD or schizophrenia so that they can be used to investigate disease causes and novel treatments in future studies.