University of Washington researchers announced their findings from a major study looking into the genetic basis of autism spectrum disorders (ASD) with an approach piloted at the UW. Their results are reported in the April 4 advanced online edition of the journal Nature.
The researchers have been studying ASD in children who have no family history of this or related impairments so called "sporadic autism" and also why autism varies in its symptoms and severity. By focusing on "sporadic autism," the researchers sought to evaluate a specific genetic model for ASD risk, namely the appearance of new mutations (termed de novo) in children with ASD that were not found in either parent.
By uncovering new gene mutations that disrupt the function of proteins, the researchers have discovered a pathway related to modifying chromatin the tightly coiled spools of DNA in the cell and to regulating genes in the brain and nervous system. Various changes in this pathway contribute to children developing autism in different ways. Mutations in this pathway also may contribute to a variety of childhood intellectual, social, and psychiatric disabilities, with implications beyond autism.
To identify these new mutations, the researchers used the latest sequencing technologies and analytical methods to determine the sequence of the protein-coding portion of the human genome, called the "exome," in family trios (father, mother, and child). This approach was piloted this past year at the University of Washington with an initial set of 20 autism families. The pilot demonstrated the technical feasibility and potential impact of this approach. (See http://www.washington.edu/news/articles/sporadic-mutations-identified-in-children-with-autism-spectrum-disorders).
For the current study, the researchers expanded
|Contact: Leila Gray|
University of Washington