USP9X Gene Critical to Human Brain Development

New research from the University of Adelaide has confirmed that USP9X, the gene linked to intellectual disability, is critical to the earliest stages of the development of human brains.
Researchers have been investigating USP9X for more than a decade, andin recent years they 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.
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.
"We hope that by learning more about genes such as USP9X, we will create new opportunities to understand brain disorders at a much deeper level than currently known, which could lead to future treatment opportunities."