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Hall et al.

A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms

Variants in the NRG1 gene may confer an elevated risk for schizophrenia. The authors here have followed for up to 10 years a group of young people from families affected by schizophrenia. They found that one particular SNP in the NRG1 gene promotor region, substituting a T for a C nucleotide, correlates with low IQ and high risk for the disease.

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Despite extensive efforts through histological, neurochemical, neuroimaging, and gene and protein expression studies, the biomedical community has yet to uncover a definitive diagnostic neuropathology for schizophrenia. However, recent genomic and proteomics studies have moved away from a purely disrupted DA model to that of oxidative stress and synaptic pathology, which may cause dysregulation of several neurotransmitters and neuronal apoptosis. Various presumed susceptibility genes and their products have been identified: neuregulin-1 (NRG1), dysbindin (DTNBP1), regulator of G-protein signaling 4 (RGS4), catechol-o-methyltransferase (COMT), proline dehydrogenase (PRODH) and disrupted-in-schizophrenia 1 (DISC1). However, there are clinical applicability issues with diagnostic specificity and the small effect size.

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