Dr. Bellone discusses how mutations in the SHANK3 gene are a recognized genetic risk factor for Autism Spectrum Disorder (ASD).

It's noted that while these mutations are typically associated with autism in humans, mice with heterozygous deletion of the Shank3 gene don't typically show ASD-like behaviors.

1. Role of the Shank3 gene in mice:

- Downregulating the Shank3 gene in the Nucleus Accumbens of neonatal mice results in increased excitability in specific neurons and impairs social behavior.

- When genetically vulnerable mice are exposed to inflammation, they display similar behavioral changes. These changes can be reversed with acute inhibition of a particular receptor (Trpv4).

2. Importance of the Nucleus Accumbens in ASD:

- Human studies have shown tha ...