| First Author | Reichelt AC | Year | 2012 |
| Journal | Neuropharmacology | Volume | 62 |
| Issue | 3 | Pages | 1519-26 |
| PubMed ID | 21262241 | Mgi Jnum | J:183601 |
| Mgi Id | MGI:5318961 | Doi | 10.1016/j.neuropharm.2011.01.024 |
| Citation | Reichelt AC, et al. (2012) The role of neurexins in schizophrenia and autistic spectrum disorder. Neuropharmacology 62(3):1519-26 |
| abstractText | Schizophrenia and autistic spectrum disorder (ASD) are common, chronic mental conditions with both genetic and environmental components to their aetiology. The identification of genes influencing susceptibility to these disorders offers a rational route towards a clearer understanding of the neurobiology, and with this the prospect of treatment and prevention strategies tailored towards the remediation of the altered pathways. Copy number variants (CNVs) underlie many serious illnesses, including neurological and neurodevelopmental syndromes. Recent studies assessing copy number variation in ASD and schizophrenia have repeatedly observed heterozygous deletions eliminating exons of the neurexin-1alpha gene (but not the neurexin-1beta gene) in patients with ASD and schizophrenia. The neurexins are synaptic adhesion proteins that are known to play a key role in synaptic formation and maintenance. The functional significance of the recurrent deletion is poorly understood, but the availability of mice with deletion of the promoter and first exon of neurexin-1alpha provides direct access to the biological effects of neurexin-1alpha disruption on phenotypes relevant to ASD and schizophrenia. We review the evidence for the role of neurexin-1alpha in schizophrenia and ASD, and consider how genetic disruption of neurexin-1alpha may underpin the neuropathology contributing to these distinct neurodevelopmental disorders. |
