Project Summary

Herbert M. Lachman. M.D. (Independent Investigator 2004) of Albert Einstein College of Medicine of Yeshiva University, proposes studying the genetic regulatory region of a gene his laboratory identified called PIK3C3, which codes for a protein of the same name that plays an important role in regulating neuronal responses to growth factors and neurotransmitters and may play a role in bipolar disease and schizophrenia. His laboratory found that a mutation called 432T was increased in patients with schizophrenia or bipolar disease from three different ethnic groups compared with control subjects. Variations in the 432 mutation affect the binding an unknown brain protein to the promoter; with 432T, the protein binds avidly to the promoter, if 432C is present, binding is absent. In his proposed study, Dr. Lachman plans to identify the protein and determine its effect on PIK3C3 promoter function. This research will provide a new avenue for understanding the underlying mechanisms, particularly gene-environment interactions, behind the development of bipolar disease and schizophrenia.

Program Area: MOOD DISORDERS\Bipolar

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