How a gene mutation leads to autism

WASHINGTON - Researchers from Mount Sinai School of Medicine have developed a mouse model to find how a gene mutation leads to autism spectrum disorders (ASDs).

They found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning.

“These data provide critical insight into the mechanism behind the development of the cognitive and social changes associated with autism,” said Joseph Buxbaum, Director of the Seaver Autism Center.

Previous research has shown that gene mutation in SHANK3 is associated with delayed language abilities, learning disability, and ASDs.

The researcher team wanted to better understand the connection between the SHANK3 mutation and subsequent brain and behavioral difficulties.

They examined mice genetically engineered to lack one copy of SHANK3, similar to patients who have a mutation in one copy of SHANK3, and compared the nerve cell activity of these mice with that of mice in a control group that did not have the mutation.

The research team observed impaired communication between nerve cells in the mice with the SHANK3 mutation.

They also found altered functional and structural plasticity in nerve cells, which is a cellular measure of the flexibility that occurs during learning, and in the synapses-the points of contact between nerve cells.

Behavioral observations indicated reduced male-female social interactions in the SHANK3 mutant mice. The studies identify clear brain targets that can implicate drugs that can be therapeutic.

The research is currently published in Molecular Autism. (ANI)