Study finds first-ever genetic animal model of autism

Dec 09, 2007

By introducing a gene mutation in mice, investigators have created what they believe to be the first accurate model of autism not associated with a broader neuropsychiatric syndrome, according to research presented at the American College of Neuropsychopharmacology annual meeting.

This animal model could help researchers better understand abnormal brain function in autistic humans, which could help them identify and improve treatment strategies. Broader neuropsychiatric conditions include Fragile X, the most common cause of inherited mental impairment, and Rett Syndrome, a childhood neurodevelopmental disorder characterized by normal early development followed by slowed brain and head growth, seizures, and mental retardation.

Autism is a neuropsychiatric disorder characterized by repetitive behaviors and by impairment in social interactions and communication skills. These symptoms can coexist with either enhanced or decreased cognitive abilities and skills.

“Prior to this study we knew next to nothing about the mechanisms of autism in the brain,” says study researcher Craig M. Powell, M.D., Ph.D., assistant professor of neurology and psychiatry at the University of Texas Southwestern Medical Center at Dallas. “With this research, we can study changes in the brain that lead to autistic behaviors and symptoms, which may help us understand more about progression and treatment of the disorder.”

The research team, led by Thomas Südhof, M.D., professor and chairman of neuroscience at UT Southwestern, replaced the normal mouse neurologin-3 gene with a mutated neuroligin-3 gene associated with autism in humans. By doing so, the team was able to create a gene in the mice that is similar to the human autism disease gene. While the result amounted to a very small change in their genetic makeup, it perfectly mimicked the same small change occurring in some patients with human autism.

Dr. Powell studied the genetically altered mice and found that, when examined in behavioral tests that may reflect key signs of autism, they showed decreased social interaction with other mice; other traits, such as anxiety, coordination and pain sensitivity, were unaffected. These social interaction deficits, Dr. Powell says, are hallmark features of human autism. In addition, the mice showed enhanced spatial learning abilities, which may resemble the enhanced cognitive abilities in autistic savants (people who have a severe developmental or mental handicap as well as extraordinary mental abilities).

“These findings could be especially helpful in identifying novel treatment approaches. We already know that inhibitory chemical synaptic transmission from one neuron to the next is increased in this mouse model. Now we can test drugs that decrease this effect directly in the mice and ask whether this reverses their social interaction deficits,” Dr. Powell says. “For now, the mainstay of autism treatment is still behavioral therapy. The earlier we can get patients involved with behavioral interventions, the better off people with autism will be.” Dr. Powell adds that the model gives researchers insight into mouse brains which share important parallels with brains of living humans, which can only be studied in limited ways with the use of new brain imaging tools.

Source: American College of Neuropsychopharmacology

Explore further: Education, breastfeeding and gender affect the microbes on our bodies

add to favorites email to friend print save as pdf

Related Stories

Gene mutation is linked to autism-like symptoms in mice

Feb 23, 2010

(PhysOrg.com) -- When a gene implicated in human autism is disabled in mice, the rodents show learning problems and obsessive, repetitive behaviors, researchers at UT Southwestern Medical Center have found.

Recommended for you

Leeches help save woman's ear after pit bull mauling

3 hours ago

(HealthDay)—A pit bull attack in July 2013 left a 19-year-old woman with her left ear ripped from her head, leaving an open wound. After preserving the ear, the surgical team started with a reconnection ...

New pain relief targets discovered

14 hours ago

Scientists have identified new pain relief targets that could be used to provide relief from chemotherapy-induced pain. BBSRC-funded researchers at King's College London made the discovery when researching ...

Building 'smart' cell-based therapies

15 hours ago

A Northwestern University synthetic biology team has created a new technology for modifying human cells to create programmable therapeutics that could travel the body and selectively target cancer and other ...

User comments : 0

More news stories

Leeches help save woman's ear after pit bull mauling

(HealthDay)—A pit bull attack in July 2013 left a 19-year-old woman with her left ear ripped from her head, leaving an open wound. After preserving the ear, the surgical team started with a reconnection ...

Male monkey filmed caring for dying mate (w/ Video)

(Phys.org) —The incident was captured by Dr Bruna Bezerra and colleagues in the Atlantic Forest in the Northeast of Brazil.  Dr Bezerra is a Research Associate at the University of Bristol and a Professor ...

Scientists tether lionfish to Cayman reefs

Research done by U.S. scientists in the Cayman Islands suggests that native predators can be trained to gobble up invasive lionfish that colonize regional reefs and voraciously prey on juvenile marine creatures.