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Newswise Research from the University of Adelaide has confirmed that a gene linked to intellectual disability is critical to the earliest stages of the development of human brains.

Known as USP9X, the gene has been investigated by Adelaide researchers for more than a decade, but in recent years scientists have begun to understand its particular importance to brain development.

In a new paper published online in the American Journal of Human Genetics, an international research team led by the University of Adelaide's Robinson Research Institute explains how mutations in USP9X are associated with intellectual disability. These mutations, which can be inherited from one generation to the next, have been shown to cause disruptions to normal brain cell functioning.

Speaking during Brain Awareness Week, senior co-author Dr Lachlan Jolly from the University of Adelaide's Neurogenetics Research Program says the USP9X gene has shed new light on the mysteries of brain development and disability.

Dr Jolly says the base framework for the brain's complex network of cells begins to form at the embryo stage.

"Not surprisingly, disorders that cause changes to this network of cells, such as intellectual disabilities, epilepsy and autism, are hard to understand, and treat," Dr Jolly says.

"By looking at patients with severe learning and memory problems, we discovered a gene - called USP9X - that is involved in creating this base network of nerve cells. USP9X controls both the initial generation of the nerve cells from stem cells, and also their ability to connect with one another and form the proper networks," he says.

"This work is critical to understanding how the brain develops, and how it is altered in individuals with brain disorders.

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Critical Role of One Gene to Our Brain Development

Latest Diet & Weight Management News

WEDNESDAY, March 12, 2014 (HealthDay News) -- Scientists who identified a gene that appears to be strongly linked with obesity say their discovery could help efforts to find drug treatments for obesity and diabetes.

"Our data strongly suggest that [the gene] IRX3 controls body mass and regulates body composition," study senior author Marcelo Nobrega, an associate professor of human genetics at the University of Chicago, said in a university news release.

Although the research showed an association between the gene and obesity, it did not prove a cause-and-effect link.

The IRX3 gene was first pinpointed through an analysis of about 150 brain samples from people of European ancestry, according to the study, which was published online March 12 in the journal Nature.

To verify the role of IRX3 in obesity, the researchers created mice without the gene and found that they weighed about 30 percent less than normal mice. Much of this weight difference was due to reduced amounts of fat in the mice without the IRX3 gene.

"These mice are thin. They lose weight primarily through the loss of fat, but they are not runts," study co-author Chin-Chung Hui, a professor of molecular genetics at the University of Toronto, said in the news release.

"They are also completely resistant to high-fat diet-induced obesity," Hui said. "They have much better ability to handle glucose, and seem protected against diabetes."

The researchers also found that mice with altered function of the IRX3 gene in the hypothalamus -- the part of the brain that controls eating and energy output -- were as lean as mice that lacked the gene.

This suggests that the gene's activity in the hypothalamus controls body mass and composition in mice, and that genetic predisposition to obesity is wired in the brain, according to the study authors.

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Scientists Spot New Obesity Gene