Investigators learn that the condition may be caused by different genes

Dec 19, 2011 08:45 GMT  ·  By
Small genetic mutations could lead to the development of schizophrenia and autism
   Small genetic mutations could lead to the development of schizophrenia and autism

According to the conclusions of a new scientific study conducted by researchers at the Johns Hopkins University (JHU), it would appear that schizophrenia may also be triggered by single DNA letter differences, which combine randomly.

The study provides additional insights into the root causes of this mysterious mental illness. Conditions such as schizophrenia and autism have never really revealed their secrets to scientists, but this research may be an important step forward on the right path.

The picture that is emerging from current research is that these conditions may in fact be caused by minor genetic variations, which are harmless in and of themselves. However, in the correct combination, they can have devastating consequences.

In other words, they are the product of a game of chance. The situation is made even more complex by the fact that some genes are known to also be influential when it comes to mental issue development.

For example, when the DISC 1 gene suffers mutations, major mental disorders follow almost immediately. The extent to which other small, previously-unknown mutations also contribute to this is currently a mystery to scientists.

“We studied the function of two proteins known to interact, FEZ1 and DISC1, in cells and animal models, which suggested that these proteins work together in adult brain development,” JHU Institute for Cell Engineering professor of neurology and neuroscience Guo-li Ming, MD, PhD, says.

“When we looked at the human genetic sequences of DISC1 and FEZ1, we found that a combination of small DNA changes raises risk for schizophrenia,” he adds. The reason behind this study was that DISC 1 mutations could not account for the majority of schizophrenia cases, since the former are very rare.

Details of the new research were published in a recent issue of the esteemed medical journal Neuron. The study was conducted on unsuspecting lab mice, who had the expression patterns of critically-important genes manipulated in ways that emulated data collected from human patients.

“By continuing to examine interactions of key genes involved with disease in cells and correlating the results with patient databases, we can begin to unravel the genetic contributions of psychiatric disorders that previously were a mystery to us,” Hongiun Song, PhD, explain.

The expert, who is the director of the JHU Institute for Cell Engineering Stem Cell Program, is also a professor of neurology at the university, PsychCentral reports.