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: InjuryBoard

Individual's Gene Glitches Uncover Schizophrenia

By Jane Akre

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Gene technology is allowing us to pinpoint with more exactness the individual genes that may contribute to schizophrenia. 

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IMAGE SOURCE:©iStockPhoto/ homeless guy/ aurumarcus 

The key to understanding the mental disorder, schizophrenia may be as individual as a person's genes.

Researchers have looked for variations or mutations to explain the mental disorder.

But new gene-scanning technology is allowing researchers to uncover the underlying biology of mental disorders by pinpointing glitches in individual genes that control brain development.  

With the technology, researchers have detected previously unknown mutations or glitches that are rare and may be as individual as the person. 

The sophisticated gene scans in this study looked for stretches of DNA where more than 100,000 pieces of genetic code were missing or mutated.  

In those people who had glitches, about 15 percent were schizophrenics and 20 percent with the disease in childhood had the disease, compared to only five percent in the healthy population.

The analysis is published in the journal Science. 

Schizophrenia affects about one percent of the population. The homeless population has a large proportion of people affected. Symptoms include scrambled thinking, acting out, delusions and social withdrawal.  

Typically the disease presents in early adulthood. It used to be blamed on "bad mothering" but increasingly genetics is known to play a role as does environment.

Pregnant women who suffer through a famines are known to have children with schizophrenia. Childhood infections can lead to the disease. And the disorder can turn up in people who have no family history.

All of this suggests that alterations can be inherited or can occur spontaneously during or near conception. Genes cal also inherit a propensity to mutate. 

Scientists believe we may all be walking around with these mutations but until they form a certain combination they may never be realized.  

In this new study, the National Institute of Mental Health and the University of Washington working along with the Cold Spring Harbor Laboratory, took blood samples from 150 people who have schizophrenia.  The control group of 268 people did not have a psychiatric disorder. 

High-resolution equipment that can scan the entire human DNA map looked for rare variations that alter the way genes work.

In all 53 such mutations turned up. People with schizophrenia were three times more likely to have the disease with these mutations.  And for a form of schizophrenia that strikes children, those people had four times the likelihood of having the rare mutation.

The consistency among all the mutations was that they occurred in genes that are involved in brain development.

For example, a single mutation can alter a protein that guides neurons to their prescribed location during brain development. Another mutation can change the shape of a molecule which is responsible for moving a brain chemical responsible for transmitting signals between brain cells.

Mary-Claire King, a professor at the University of Washington involved in the findings says this helps explain why genetic selection has not caused schizophrenia to disappear.

She tells the New York Times, "A constant influx of new mutations that occur purely by chance, out of the blue, can explain the persistence of schizophrenia in all parts of the world and throughout human history."

The hopes are high-resolution technology can be used to catalog gene mutations in a variety of mind-altering diseases such as autism, bipolar disorder and depression for which targeted drug therapy can be effective. #

Full post as published by InjuryBoard on March 28, 2008 (boomark / email).

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