Gene mutation produces autism-like traits in mice

March 23, 2011

By causing the  of one specific, researchers have produced mice with two frequently encountered behavioral  traits of persons diagnosed with autism. Autism commonly affects the ability to interact socially and is associated with. The finding was reported in the March 20 online edition of. Using mice, researchers at the (MIT) and  mutated one of the genes associated with autism, known as, a gene that controls the production of the shank3 protein present in the brain. Mice that were given this mutation exhibited repetitive behavior and avoided social interactions with the mice around them.

According to MIT Professor Guoping Feng: "Our study demonstrated that Shank3 mutation in mice lead to defects in neuron-neuron communications." Shank3 protein are found in  within the brain. Synapses allow brain cells (called ) to communicate with each other. The mutation in the mouse gene interfered with this communication, apparently producing the subsequent autism-like traits. Researchers believe their work demonstrates the important role of shank3 in the functioning of brain circuits that determine behavior.

While hundreds of genes have been linked to autism in human patients, only a small percentage have been linked to shank3. Professor Feng hypothesizes that  disruptions of other genes that act on the production of brain proteins affecting synaptic communication may also be related to autistic behavior. If this disruption is real, Feng claims that treatments could be developed to correct synaptic function for any defective synaptic protein in an autistic  patient.

Feng continued; "These findings and the mouse model now allow us to figure out the precise neural circuit defects responsible for these abnormal behaviours, which could lead to novel strategies and targets for developing treatment."

About one in 110 children in the U.S., and at least one in 100 in UK, have been diagnosed with an, for which there is currently no effective cure.