Publications by authors named "Shireene Kalbassi"
The etiology of autism spectrum disorders (ASDs) is a complex combination of genetic and environmental factors. Neuroligin3, a synaptic adhesion protein, and cytoplasmic interacting protein 1 (CYFIP1), a regulator of protein translation and actin polymerization, are two proteins associated with ASDs that interact in neurons Here, we investigated the role of the Neuroligin3/CYFIP1 pathway in behavioral functioning and synapse formation in mice and found that it contributes to motor learning and synapse formation in males. Similar investigation in female mice revealed an absence of such phenotypes, suggesting that females are protected against mutations affecting this pathway.
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- Deletions in the 15q11.2 genomic region are linked to neurobehavioral issues, such as developmental delays and symptoms related to autism or schizophrenia.
- The CYFIP1 gene within this region plays a role in autism spectrum disorders, and studies in mice show that its deficiency affects dendritic spine morphology and synaptic plasticity, which are key indicators of ASD.
- Research indicates that behavioral training can improve motor learning deficits linked to CYFIP1 deficiency in mice, suggesting potential treatment avenues for conditions associated with 15q11.2 deletions and autism.
Article Synopsis
- Interactions with peers are essential for normal behavior development in mammals, including mice, particularly those with autism-related gene deletions.
- When raised together, male knockout mice (lacking the autism-related gene) and their wild-type peers displayed reduced sociability and increased anxiety, with behavioral changes heavily influencing each other.
- The presence of the autism-related gene in certain brain cells can restore social behavior in knockout mice, while female knockout mice were less affected by peers' behavior but still influenced their wild-type littermates, highlighting how social environments differently affect male and female mice.