A study published in Jeurosci found that mice lacking the Shank3 gene have structural and functional defects in the frontal cortex. This study provides a better understanding of one of the most common genetic risk factors for autism spectrum disorders.
Shank3 mutations are common in patients with autism and related developmental disorders. Previous animal studies have shown that there is a link between Shunk 3 and basal ganglia dysfunction, which may lead to repetitive behavioral characteristics of autism. In humans, Shank3 mutations are also associated with mental and speech disorders. Marco Pagani, Alessandro Gozzi, and colleagues used magnetic resonance imaging in adult male mice and found that animals lacking Shank 3 had reduced connectivity and off-white matter in the frontal cortex. Researchers report that these brain differences are closely related to impaired social activity in female mice.
These findings confirm the role of Shank3 in maintaining frontal cortex connections, which may increase the risk of autism.