New York: A groundbreaking study led by Indian-origin neuroscientist Dr. Viji Santhakumar has identified a gene, neuropilin2, that plays a significant role in the development of autism spectrum disorder (ASD) and epilepsy. The research, published in Nature Molecular Psychiatry, provides new insights into the mechanisms behind these often co-occurring conditions and paves the way for potential therapeutic strategies.
Neuropilin2 encodes a receptor crucial for cell-cell interactions in the brain, regulating the formation of neural circuits. While previous studies have linked mutations in neuropilin2 to neurological disorders like autism and epilepsy, the underlying mechanisms were largely unclear. Dr. Santhakumar, a professor at the University of California–Riverside, collaborated with an international team to investigate the gene's role using a specially developed mouse model.
The researchers discovered that deleting the neuropilin2 gene disrupts the migration of inhibitory neurons in the brain, disturbing the balance between excitatory and inhibitory signals. This imbalance contributes to autism-like behaviors and increases the risk of seizures.
"Our findings show that disrupting inhibitory circuit development is sufficient to cause both autism-related behaviors and epilepsy," explained Dr. Santhakumar to IANS. The study highlights how a single gene can influence both excitatory and inhibitory systems, offering insights into the dual impact of neuropilin2 on brain function.
By selectively deleting neuropilin2 during key developmental phases, the team observed deficits in behavioral flexibility, social interaction, and an elevated risk of seizures. These results underline the importance of targeting specific stages of neuronal development to prevent or mitigate these disorders.
Santhakumar emphasized that early detection and intervention could significantly improve outcomes for individuals with autism and epilepsy. "By isolating the role of inhibitory circuit formation, we can explore therapeutic strategies to address the challenges faced by those with these conditions," she said.
Dr. Santhakumar collaborated with Deepak Subramanian, Andrew Huang, and Samiksha Komatireddy of UC-Riverside, alongside Carol Eisenberg, Jiyeon Baek, Haniya Naveed, Michael W. Shiflett, and Tracy S. Tran from Rutgers University. This study marks a significant step forward in understanding and treating complex neurological disorders.