A gene linked to intellectual disability, known as USP9X, is crucial to the early stages of human brain development a new study has found.
Research led by Dr Lachlan Jolly, from the University of Adelaide, used data collected from 208 families with nonsyndromic intellectual disability, and extended the study using mice. They discovered that USP9X becomes active at the embryo stage, controlling the initial generation of nerve cells from stem cells and their ability to form networks with one another.
Mutations in USP9X, that can be inherited across generations, are associated with intellectual disabilities, epilepsy and autism. By understanding the gene’s role in brain development scientists will have a deeper understanding of how intellectual disabilities begin in the brain.
Read more at University of Adelaide