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UCLA Researchers Find Autism Gene

Evidence comes from families with autistic boys

January 10, 2008

Autism • Mercury Exposure, Autism Linked In Study • UCLA Researchers Find Autism Gene • Autism Fad Treatments On the Rise • CDC Study Finds Autism More Widespread than Previously Thought • Older Fathers More Likely to Have Autistic Children • Many Pediatricians Fail to Screen for Autism • Schizophrenia Drug May Be Effective in Autism • Studies Find Autism Not Caused by Vaccinations • Old Vaccines May Pose Autism Risk to Children --- • News for Parents

UCLA scientists have used language onset -- the age when a child speaks his first word -- as a tool for identifying a new gene linked to autism. The team also discovered that the gene is most active in brain regions involved with language and thought.

Interestingly, evidence for the genetic link came from the DNA of families with autistic boys, not those with autistic girls. The discovery does not offer any immediate treatment but offers clues for future research.

About one in 150 children under the age of three is diagnosed with autism. Symptoms range from mild to profound, and include impaired social interaction, problems speaking or communicating, and unusual or repetitive behaviors.

The findings, published in the American Journal of Human Genetics, feature two studies from research teams at Yale and Johns Hopkins that used different methods that pinpointed the same gene. The coincidence suggests that the gene, called contactin-associated protein-like 2 (CNTNAP2), likely plays a key role in the development of autism.

“This gene not only may predispose children to autism,” said Dr. Daniel Geschwind, principal investigator in the study. “It also may influence the development of brain structures involved in language, providing a tangible link between genes, the brain and behavior.”

Children normally utter their first word by age 1. Children with autism, however, can be speech-delayed by many months or even years. Some never speak language at all. Late language onset is a symptom shared by most children with autism.

In an earlier study, the UCLA investigators studied the DNA of 291 families nationwide who had donated blood samples to the Autism Genetic Resource Exchange. Each family had at least one autistic child; youngsters who had never spoken were excluded. The findings connected a specific region of Chromosome 7, called 7q35, to autism.

In the current study, the researchers scrutinized every gene in the 7q35 region using DNA samples from 172 families. They identified four promising genes; one of the candidates was CNTNAP2.

To verify their findings, the scientists conducted a second test on a new group of 304 families. The CNTNAP2 gene showed up consistently, confirming its implication in language development.

In a second approach, the researchers examined CNTNAP2’s presence in early brain tissue and discovered that the gene was most active in developing brain structures involved in language and thought.

Like a house

Postdoctoral fellow Brett Abrahams, who led this part of the research, explains the finding’s significance by comparing the brain to a house.

“We know that different rooms in houses serve different purposes,” said Abrahams. “For example, if an item only appears in the kitchen, it makes sense to assume it’s involved in cooking. Or if we find an object only in the bedroom, it’s likely connected to sleeping.

“The fact that we found CNTNAP2 concentrated in the brain’s structures that are involved in higher cognition gives us strong clues about how its disruption might adversely shape brain development, including speech and language,” he said.

In an unexpected third finding, the scientists found that statistical evidence for the gene was strongest in families with autistic boys. Less of an association appeared in families with autistic boys and girls, or in families with autistic girls only.

“Autism strikes boys three times as often as girls,” said Maricela Alarcon, first author and UCLA assistant professor in residence of neurology. “This finding may partly explain why.”

The 3:1 gender ratio between boys and girls also applies to rates of attention deficit disorders, learning disabilities and language disorders.

“It will be interesting to learn whether CNTNAP2 also plays a role in language development in non-autistic children,” observed Alarcon. “Our next step will be to identify more traits, such as seizures or other symptoms, that will help us track down additional genes linked to the disorder.”

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