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Genetic Scientists Identify Key Gene for Human Brain Development


An anatomical illustration from Sobotta’s Human Anatomy, 1908, shows the structure of a human brain. Image credit: Dr Johannes Sobotta.

Genetic Scientists Identify Key Gene for Human Brain Development

A new study, reported in the American Journal of Human Genetics, confirms that a gene called USP9X is critical to the earliest stages of the human brain development.

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

The new results show 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.

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

“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.”

“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,” Dr Jolly said.

“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.”

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,” Dr Jolly concluded.

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