In the November issue of the American Journal of Human Genetics, NAAR-funded researchers Drs. James Millonig, Emanuel DiCicco-Bloom and Linda Brzustowicz at Rutgers University and the University of Medicine and Dentistry of NJ reported a significant association between specific modification in the expression of the ENGRAILED2 gene and symptoms of autism spectrum disorder. Alterations in this specific genetic marker were observed in three separate groups of families affected by autism spectrum disorders, further strengthening the evidence of an association. Dr. Millonig, senior author on the publication, commented that ”these findings provide further evidence of the ENGRAILED2 gene in ASD susceptibility, and may mean that as many as 40% of individuals with ASD may show this specific change in the way the ENGRAILED2 gene is expressed”.

In addition to the human genetic studies, Dr. DiCicco-Bloom, a neurobiologist at UMDNJ who also serves on the NAAR Scientific Advisory Board, demonstrated a mechanism by which alterations in this gene may lead to altered neuronal function. The experiments described in this article demonstrate a neurobiological link between neuronal development and genetic susceptibility, crossing both the basic and clinical sciences through collaborative research. NAAR continues to fund the exploration of the involvement of this gene in ASD by continuing to fund research projects led by both Drs. Millonig and Dr. George Wagner at Rutgers University in NJ. Dr. Wagner is working with Dr. Millonig to examine how mice without proper ENGRAILED2 functioning behave in the presence and absence of environmental toxicant exposure. These studies will help determine how alterations in this specific gene affect different aspects of behavior, and if any change in behavior is made more severe following toxicant challenge.

This research has led to greater funding for autism susceptibility genes from the NIH, however, Dr. Millonig remarks: “These studies would not have been possible without NAAR support.” For more information on this study click here.