Project Summary

Nancy A. Sachs, Ph.D. (Young Investigator 2006) of the Johns Hopkins School of Medicine, plans to study the molecular biology of a DISC1 gene mutation she found in an American family with schizophrenia and schizoaffective disorder. DISC1, or Disrupted-in-Schizophrenia-1, was first identified as a schizophrenia susceptibility gene in a large Scottish family following identification of a chromosomal translocation. Dr. Sachs plans to use an antibody assay to find the mutant protein in cell lines derived from the American family members. She also will create cell models expressing mutant and wild-type DISC-1 to compare their cellular localizations and the proteins that interact with either of them. So far, she has found that mutant DISC-1 fails to associate with Nudel, a neuronal migration protein. Since Nudel is implicated in neuronal migration, she hopes to measure if mutant DISC-1 affects neurite outgrowth because this could provide the pathological consequence of expressing mutant DISC-1. Findings should lead to a better understanding of the pathophysiology of schizophrenia.

Program Area: SCHIZOPHRENIA/PSYCHOTIC DISORDERS\Schizophrenia

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