HUNTSVILLE, Ala. – Because autism spectrum disorders are so diverse, scientists have only found a few genetic factors that clearly contribute a risk of developing the condition. New work from HudsonAlpha, along with colleagues from Vanderbilt University, the Broad Institute and 11 other groups, has examined genome mutations in autism and concludes that the picture is still complex.
Scientists can now use genome sequencing to compare the genetic codes of parents and children, and look for new mutations in the children and not in the parents. These are called de novo mutations. In the case of autism spectrum disorder (ASD), the new study compared 175 children with their parents, and found that de novo mutations only occurred slightly more than by chance.
Shawn Levy, Ph.D., a faculty investigator at HudsonAlpha and author in the study, explained, “These results show that new mutations have a limited but possibly important role in autism spectrum disorder, perhaps contributing at most 10-20 percent of the risk we see.”
To understand what effects the mutations might be having, the researchers then went on to model the interactions between proteins made by the genes with new mutations and other genes previously identified to be associate with Autism. These proteins form a web of interactions in cells and are quite highly connected. This suggests that when de novo mutations do happen they could disturb the web and have an effect on the entire process of brain development or function.
Levy added, “Although the causes and complexities of ASD remain elusive, this study has illustrated that elaborate networks of proteins and contributing factors such as parental age are keys to our understanding of ASD”.
The paper, “Patterns and rates of exonic de novo mutations in autism spectrum disorders,” was published in the journal Nature.
Media Contact: Beth Pugh
About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to innovating in the field of genomic technology and sciences across a spectrum of biological problems. Its mission is three-fold: sparking scientific discoveries that can impact human health and well-being; fostering biotech entrepreneurship; and encouraging the creation of a genomics-literate workforce and society. The HudsonAlpha biotechnology campus consists of 152 acres nestled within Cummings Research Park, the nation’s second largest research park. Designed to be a hothouse of biotech economic development, HudsonAlpha’s state-of-the-art facilities co-locate scientific researchers with entrepreneurs and educators. The relationships formed on the HudsonAlpha campus allow serendipity to yield results in medicine and agriculture. Since opening in 2008, HudsonAlpha, under the leadership of Dr. Richard M. Myers, a key collaborator on the Human Genome Project, has built a name for itself in genetics and genomics research and biotech education, and boasts 26 biotech companies on campus.