The Hidden Complexity Underlying a Common Cause of Autism

Genes located in a large chromosomal aberration associated with autism interact with each other to modulate the variable symptoms of the disease, according to new research. A collaborative team led by Penn State researchers tested the role of these genes individually and in tandem by reducing the amount of the genes expressed in a fruit fly model. The research, which appears June 29, 2018 in the journal Nature Communications, demonstrates the utility of the fly as an experimental model for understanding the complex causation of human neurodevelopmental disorders and identifies potential targets for therapeutic treatment. "As opposed to diseases that are caused by mutations in single genes, autism and other neurodevelopmental disorders have a complex etiology that can be the result of many interacting genes," said Santhosh Girirajan, associate professor of biochemistry and molecular biology and of anthropology at Penn State and the lead author of the paper. "The tools available in flies for genetic manipulation allowed us to quickly test many individual and pairs of genes, so that we can begin to piece together the complexity of their interactions and how that can impact disease symptoms." Read More