Gene behind brain development discovered

In a breakthrough, scientists have found a gene key for the development of our brain.

The study shows how mutations in the gene called USP9X are linked to intellectual disability.

These mutations – inheritable from one generation to the next – are believed to cause disruptions to normal brain cell functioning.

By looking at patients with severe learning and memory problems, scientists discovered this particular gene that is involved in creating this base network of nerve cells.

“The USP9X gene has shed new light on the mysteries of brain development and disability,” said Lachlan Jolly from the University of Adelaide.

“Disorders that cause changes to this network of cells, such as intellectual disabilities, epilepsy and autism, are hard to understand, and treat,” he added.

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.

The findings would be crucial to understand how the brain develops and how it is altered in individuals with brain disorders.

By learning more about genes such as USP9X, scientists may create new opportunities to understand brain disorders at a much deeper level than currently known, he added.

The study was published in the American Journal of Human Genetics.


Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA. Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth. Am J Hum Genet. 2014 Mar 6;94(3):470-8. doi: 10.1016/j.ajhg.2014.02.004.

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