New Method May Uncover the Genes at the Root of Schizophrenia

First Posted: Jul 05, 2014 06:51 AM EDT
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Psychiatric disorders can completely alter a person's life. Now, scientists have found a new way to understand the basis of psychiatric disorders; they've found a method that may reveal how "subthreshold" genetic risks interact with other risk factors or environmental exposures to affect the development of the nervous system.

The new method takes advantage of a recently developed technology that takes skin cells from patients and reprograms them into pluripotent stem cells (iPSCs) that can then generate any cell type in the body. This gave researchers the opportunity to acquire stem cells from individuals with a genetic abnormality that makes them more susceptible to schizophrenia.

The researchers watched genetic deficits in these cells during nerve development. In the end, they traced back these deficits to a gene called cYFIP1, which helps maintain a nerve cell's structure. Then, the team blocked this gene in developing mouse embryos and found that defects in the formation of the cerebral cortex, which is a brain region that plays an important role in consciousness.

In the end, the scientists found that mutations in two genes within a cellular pathway linked to CYFIP1 led to a significantly increased risk of schizophrenia. This, in particular, shows that there may be multiple factors within the same pathway that may interact to affect a person's risk for psychiatric disorders.

"We were able to use a set of cutting-edge tools to gain insight into a critical cellular process for normal brain development, the dysregulation of which may be a manifestation of a genetic predisposition for schizophrenia," said Guo-li Ming, one of the researchers, in a news release.

The findings could advance researchers' understanding of this disorder and could eventually help scientists develop new treatments to help those suffering from the condition.

The findings are published in the journal Cell Stem Cell.

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