WEDNESDAY, Oct. 5 (HealthDay News) -- Scientists have
genetically engineered mice whose symptoms closely mimic autism in
Though this isn't the first "mouse model" for autism, the mice
in this study come closer to mirroring all of the core symptoms of
the developmental disorder in humans, said senior study author
Matthew Anderson, an assistant professor of neurology and pathology
and director of neuropathology at Beth Israel Deaconess Medical
Center and Harvard Medical School in Boston. To create these mice,
the researchers altered a gene previously believed to play a role
in the development of autism.
Autism is characterized by problems with social interaction,
verbal and nonverbal communication and restricted interests and
The "autistic mice" showed similar traits. Unlike ordinary mice,
the genetically engineered versions showed little interest in
interacting with other mice. While regular mice vocalize when
they're together -- especially in response to receiving something
highly rewarding such as sugar -- the autistic mice stayed quiet.
The autistic mice also excessively groomed themselves, suggesting a
repetitive behavior, Anderson said.
The study is published in the Oct. 5 issue of
Science Translational Medicine.
In the study, the mice were engineered to have abnormality in
the Ube3a gene on a region of the chromosome called 15q11-13. That
region had been previously implicated in autism, as well as in
Angelman syndrome, which can lead to developmental delays, speech
difficulties, seizures and walking or balance difficulties.
Specifically, the mice in the study were bred to have triple
copies of the Ube3a gene.
Although the gene that researchers manipulated in the mice has
been linked to only about 3 percent of autism cases, it's actually
among the most common genetic causes of the condition, Anderson
Also, by strengthening the evidence that the particular gene
abnormality is strongly linked to autism, researchers say the mice
may one day be useful in testing new drugs that could counteract
the effects of the gene abnormality.
"Now that we have a good surrogate, we can test medications to see if their communication and social interaction improves," he said.
By using mice as their test subjects, researchers were able to
closely study the brain tissue of the mice to see what's going
wrong. With the Ube3a duplication, researchers found that defects
in a particular aspect of communications between neurons, called
the excitatory synapses.
Mary Blue, a neuroscientist at Kennedy Krieger Institute in
Baltimore, said the paper is "very comprehensive" and a good
example of a model for autism in that "they are seeing changes in
social behavior, changes in repetitive behavior and changes in
But it's not the only mouse model for autism. Other scientists
have created models by manipulating other genes, she said,
including her own lab, which is working on a mouse model that
mimics the serotonin deficits associated with autism.
And even the best mouse model can only take research so far,
Blue added. It's widely accepted that a single gene isn't to blame
for autism, but that a variety of genes and environmental
influences play a role.
One thing researchers didn't find when they engineered their
autistic mice were alterations in brain structure that have been
associated with autism in humans, such as a temporary increase in
brain volume seen in infants and toddlers who go on to receive an
"Autism is multi-factorial. There can be genetic factors, but there is also an environmental aspect of it, which is what makes it very hard to model," she said.
And not everyone is convinced that any mouse could truly mimic
the social and language deficits seen in people with autism, she
added. "Most clinicians working with autism are not that interested
in animal models because you can't model human communication in
mice," she said. "Mice can't talk."
National Institutes of Health has more on autism.