New Genetic Clues to Autism Found
2 New Gene Mutations Linked to Autism
WebMD News Archive
Tracking the Autism Genes continued...
Next, Notterman's team validated the finding to see if the genes were
expressed in the brain. They found that NCAM2 was ''expressed in some regions
of the brain that may be associated with autism -- the hippocampus and the
''Many of the genes described [recently as having a link to autism] are
genes involved in the synapse," Notterman says. A synapse is a specialized
junction at which a nerve cell communicates with another cell.
The genetic mutation of NCAM2 is probably rare, Notterman says. "We would
estimate that 0.5% or fewer of kids with autism have the NCAM2 [mutation]."
"About six to 10 rare genetic mutations to date have been associated with
autism," Notterman says. "Most people working in the field predict there will
be 50 to 100."
Some parents and siblings of the children with autism were found to have the
NCAM2 mutation but not the disorder, which the researchers expected to find.
This suggests other genetic factors or environmental triggers play a role.
Notterman conducted the research while at Princeton University. The research
was supported by the Simons and Nancy Laurie Marks Foundations and the AGRE
Tracking Autism Genes: Implications
While there is no immediate application of the discovery for parents,
Notterman says the new research suggests that ''science is probably on the
right track over the next decade to understand much more about the basic
biology of autism.''
The recurring theme recently, he says, is the finding of structural
variations in the DNA that cause mutations in the genes affecting the
The new findings reflect the complexity of the origin of autism, says Daniel
Coury, MD, chief of developmental and behavioral pediatrics at Nationwide
Children's Hospital in Columbus, Ohio, and medical director of the Autism
Treatment Network, a consortium of 14 U.S. and Canadian sites focused on
''There was the popular belief that we were going to find 'the gene,'" says
Coury, who reviewed the study results for WebMD.
''That got expanded," he says, as ongoing research turned up several more
genetic mutations associated with autism.