Project Summary

Henriette Raventos, M.D., M. Sc., (Independent Investigator 2006) of Universidad de Costa Rica, aims to study a particular mutation in the neuregulin 1 (NRG1) gene associated with psychotic disorders in a population of people from Costa Rica. NRG1 is a promising candidate gene for schizophrenia. Evidence in support of this gene’s involvement in schizophrenia comes from linkage findings on chromosome 8p12–p21 and association studies in several populations from Iceland, Scotland, the United Kingdom, China, Japan and Costa Rica. Transgenic mice with partial NRG1 gene deletions exhibit abnormal behavior ameliorated with clozapine. NRG1 participates in the survival, proliferation, migration, and differentiation of neurons and glia and is expressed in neocortical brain regions implicated in schizophrenia. All these findings strengthen the hypothesis that NRG1 is involved in schizophrenia. However, no unique haplotype or functional polymorphism has been yet identified. But Dr. Raventos has recently detected in the Costa Rican population a novel polymorphism that codes for an amino acid change in the transmembrane region of NRG1. The amino acid is strongly conserved across species, thus it is likely the polymorphism will have functional ramifications. In this study, Dr. Raventos proposes to characterize the behavioral and genetic signature of the polymorphism using psychiatric, neurological, imaging and genotypic evaluations.

Program Area: SCHIZOPHRENIA/PSYCHOTIC DISORDERS\Schizophrenia\Psychosis

Search Again