Scientists at the University of California, San Diego (UCSD) School of Medicine have found that mutations that cause autism in children are connected to a pathway that regulates brain development. The research, led by Lilia Iakoucheva, Ph.D, Assistant Professor in the Department of Psychiatry, was published in the February 18, 2015 issue of Neuron. The article was entitled “Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases.” The researchers studied a set of well-known autism mutations called copy number variants or CNVs. They investigated when and where these mutated genes were expressed during brain development. “One surprising thing that we immediately observed was that different CNVs seemed to be turned on in different developmental periods,” said Dr. Iakoucheva. Specifically, the scientists noted that one CNV located in a region of the genome known as 16p11.2 (on chromosome 16), contained genes active during the late mid-fetal period. Ultimately, the researchers identified a network of genes that showed a similar pattern of activation including KCTD13 within 16p11.2 and CUL3, a gene from a different chromosome that is also mutated in children with autism. “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 Dr. Iakoucheva. Rho proteins play critical roles in neuronal migration and brain morphogenesis at early stages of brain development. “Suddenly, everything came together and made sense.”
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