Autism Genes Activate During Fetal Brain Development

A neural pathway previously associated with autism has now been identified as the primary precursor to multiple forms the disorder throughout late fetal development. Researchers from the University of California, San Diego School of Medicine reported in the journal Neuron that they began with an analysis of well-known autism mutations, called copy number variants (CNVs). This study elaborated on seemingly unpredictable timing of each CNV being activated, eventually noting that a region of a genome known as 16p11.2 became active in the late fetal period, before any other mutations became visible. “The most exciting moment for us was when we realized that the proteins encoded by these genes form a complex that regulates the levels of a third protein, RhoA,” said the lead researcher. “Suddenly, everything came together and made sense.” This mutation has been linked to both increased and decreased head sizes, and weight control issues; characteristics which have been loosely correlated with autism spectrum disorder. Using a stem cell model of autism, researchers hope to test pathway inhibitors to target this condition in order to create a specialized treatment method. To learn more about this study, click here.