BRAIN REGIONS IDENTIFIED CAUSED BY GENE MUTATIONS LINKED TO AUTISM

nullA new study lead by researchers has identified the that impact on brain regions. The research has focused on 9 genes those that are most strongly associated with autism and investigated their effects using precise maps of gene expression during human brain development.

(ASD) are marked by deficits in social interaction and language development, as well as by repetitive behaviors and/or restricted interests, are known to have a strong genetic component, with different degrees on the severity of ASD.

The set of genes had been linked to abnormalities in , known as cortical projection neurons in the deepest layers of the developing prefrontal cortex, during the middle period of fetal development.

This is the first time that researchers have been able to pin point specific correlated with (ASD) at a specific point in human development.

“Given the small subset of autism genes we studied, I had no that we would see the degree of spatiotemporal convergence that we saw,” said State,the lead researcher, an international authority on the genetics of .

“This strongly suggests that, though there are hundreds of autism risk genes, the number of underlying biological mechanisms will be far fewer,” he said. “This is a very important clue to advance precision medicine for autism toward the development of personalized and targeted therapies.”

“We couldn’t have done this even two years ago,” State said, “because we didn’t have the key : a set of unbiased autism genes that we have confidence in, and a map of the landscape of the developing human brain. This work combines large-scale ‘-omics’ data sets to pivot into a deeper understanding of the relationship between complex genetics and biology.”

Source

A. Jeremy Willsey, Stephan J. Sanders, Mingfeng Li, Shan Dong, Andrew T. Tebbenkamp, Rebecca A. Muhle, Steven K. Reilly, Leon Lin, Sofia Fertuzinhos, Jeremy A. Miller, Michael T. Murtha, Candace Bichsel, Wei Niu, Justin Cotney, A. Gulhan Ercan-Sencicek, Jake Gockley, Abha R. Gupta, Wenqi Han, Xin He, Ellen J. Hoffman, Lambertus Klei, Jing Lei, Wenzhong Liu, Li Liu, Cong Lu, Xuming Xu, Ying Zhu, Shrikant M. Mane, Ed S. Lein, Liping Wei, James P. Noonan, Kathryn Roeder, Bernie Devlin, Nenad Sestan, Matthew W. State. Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism. Cell, 2013; 155 (5): 997 DOI: 10.1016/j.cell.2013.10.020

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