Gene linked to intellectual disability critical to brain development in humans

A latest 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.

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

An international research team led by the University of Adelaide's Robinson Research Institute has explained 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 said that disorders that cause changes to this network of cells, such as intellectual disabilities, epilepsy and autism, were hard to understand, and treat.

Dr. Jolly added that the gene was discovered while looking at the patients with severe learning and memory problems, asserting that USP9X apparently 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.

The report has been published by American Journal of Human Genetics.