News Release 

Autism gene linked to brain and behavior deficits in mice

Shank3 maintains prefrontal cortex connectivity, may increase autism risk when disrupted

Society for Neuroscience


IMAGE: Shank3 mutants exhibit prefrontal mis-wiring and gray matter defects. view more 

Credit: Pagani et al., JNeurosci (2019)

Mice lacking the gene Shank3 display structural and functional deficits in the prefrontal cortex, finds a study published in JNeurosci. The research advances our understanding of one of the most common genetic risk factors for autism spectrum disorders.

Shank3 mutations are commonly observed in humans with autism and related developmental disorders. Previous animal research documents associations between Shank3 and basal ganglia dysfunction, which may contribute to repetitive behaviors characteristic of autism. In humans, Shank3 mutations have also been linked to intellectual and language difficulties.

Using magnetic resonance imaging in adult male mice, Marco Pagani, Alessandro Gozzi and colleagues demonstrate reduced prefrontal cortex connectivity and gray matter volume in Shank3-deficient animals. The researchers report these brain differences are tightly linked to impaired social interaction with female mice. These findings establish a role of Shank3 in maintaining prefrontal cortex connectivity, which may increase autism risk when disrupted.


Manuscript title: Deletion of Autism Risk Gene Shank3 Disrupts Prefrontal Connectivity*

*A preprint of this manuscript has been posted on bioRxiv

About JNeurosci

JNeurosci, the Society for Neuroscience's first journal, was launched in 1981 as a means to communicate the findings of the highest quality neuroscience research to the growing field. Today, the journal remains committed to publishing cutting-edge neuroscience that will have an immediate and lasting scientific impact, while responding to authors' changing publishing needs, representing breadth of the field and diversity in authorship.

About The Society for Neuroscience

The Society for Neuroscience is the world's largest organization of scientists and physicians devoted to understanding the brain and nervous system. The nonprofit organization, founded in 1969, now has nearly 37,000 members in more than 90 countries and over 130 chapters worldwide.

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