Published in the American Journal of Human Genetics, the research explains how mutations in USP9X are associated with intellectual disability. These mutations, which can be inherited from one generation to the next, cause disruptions to normal brain cell functioning.
Senior co-author Dr Lachlan Jolly of the University of Adelaide’s Neurogenetics Research Program says that the base framework for the brain’s complex network of cells begins to form at the embryo stage. “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,” he says. “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.
“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.”
