Scientists at the University of Washington (UW) Department of Genome Sciences have identified several sporadic or "de novo" genetic mutations in children with autism spectrum disorder. The researchers applied leading edge molecular biology techniques and massively parallel sequencing to simultaneously examine all of the protein coding portions of the genome, collectively called the exome.
The research was published in advance online Sunday, May 15, in Nature Genetics.
The study was led by Dr. Brian O'Roak, senior fellow in the UW Department of Genome Sciences, and senior authors Dr. Evan Eichler, UW professor of genome sciences and a Howard Hughes Medical Institute investigator, and Dr. Jay Shendure, UW assistant professor of genome sciences.
O'Roak and colleagues analyzed the exomes of 20 individuals with autism spectrum disorder and their parents, an approach called trio-based exome sequencing. Autism spectrum disorders encompass a range of social impairments in language, communicating and interacting with others, repetitive behaviors, and engrossing fascinations. The condition can be mildly to severely disabling.
The researchers found 21 newly occurring mutations, 11 of which altered proteins. Proteins altered by genetic mutations may hold clues to the biological pathways involved in the development of the disease. The abnormal proteins or the pathways they affect could draw interest as targets in the design of preventive or treatment drugs.
O'Roak's fellowship at the UW, as well as part of the research itself, was supported by American Recovery and Reinvestment Act funding from the U.S. government. O'Roak said, "I came to the UW with the specific plan to use the latest genomic technology to study autism because it affects the lives of so many children, adults and their families."
In four of the 20 families studied, O'Roak and colleagues identified disruptive new mutations that are potenti
|Contact: Leila Gray|
University of Washington