Health News: Understanding Autism and Genetics
Research out of George Washington University published in Proceedings of the National Academy of Sciences reveals another piece of the puzzle in a genetic developmental disorder that causes behavioral diseases such as autism.
Genetic lesions known to be associated with autism and other behavioral diseases disrupt cellular and molecular mechanisms that ensure normal development of a key type of cortical neuron: the interneuron. The research also shows that the main reason they don’t move properly is due to diminished expression of activity of a key regulatory pathway for migration, the Cxcr4 cytokine receptor.
In very early development, those with 22q11.2 deletion syndrome do not make enough cells in one case, and do not put the other cells in the right place. The mechanisms that make these cells and put them in the right place during the first step of development have gone awry due to mutation.