A single gene that was previously found to be the driving force in a rare syndrome linked to epilepsy, autism and developmental disability has been identified by Dr Debby Silver and colleagues as a linchpin in the formation of healthy neurons.
The gene, DDX3X, forms a cellular machine called a helicase, whose job it is to split open the hairpins and cul-de-sacs of RNA so that its code can be read by the protein-making machinery of the cell. This gene is carried on the X chromosome, so females have two copies of the gene and males have only one.
Click here to read the Duke Today article.
The full publication, "Aberrant Cortical Development is Driven by Impaired Cell Cycle and Translational Control in a DDX3X Syndrome Model,” can be accessed here.