MedicalResearch.com Interview with:
Woo-Yang Kim, Ph.D
Associate Professor
Department of Developmental Neuroscience
Munroe-Meyer Institute
University of Nebraska Medical Center
Omaha, NE 68198-5960
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Autism impairs the ability of individuals to communicate and interact with others. About 75 percent of individuals with autism also have intellectual disability, which is characterized by significant limitations in cognitive functions and adaptive behaviors. While autism and intellectual disability are currently defined using behavioral criteria, little is known about the neuropathogenesis of these conditions.
Recent genetic studies have reported that haploinsufficiency of
ARID1B causes autism and intellectual disability. However, the neurobiological function of ARID1B during brain development is unknown.
Our study investigated the neurobiological role of the gene in brain development. Using genetically-modified mice, we found that
Arid1b haploinsufficiency leads to an excitation-inhibition imbalance by reducing the number of GABAergic interneurons in the cerebral cortex. Furthermore, we showed that treatment with a GABA
A-receptor positive allosteric modulator rescues ASD-like behavior and cognitive dysfunction in
Arid1b-haploinsufficient mice, suggesting an association between lower numbers of GABAergic interneurons and behavioral outcomes.
Our findings suggest a pathogenic mechanism for Autism Spectrum Disorder and intellectual disability.
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