Viji Santhakumar and her team identify the neuropilin2 gene, shedding light on autism and epilepsy
Indian-origin neuroscientist Viji Santhakumar and her research team have discovered a gene, neuropilin2, that plays a critical role in the development of autism spectrum disorder and epilepsy. The groundbreaking study highlights how this gene influences behavioural changes and seizure risks by disrupting neural circuit development, reported gujaratsamachar.com.
The neuropilin2 gene impacts inhibitory neuron migration, leading to autism-like behaviours and heightened seizure susceptibility
Published in Nature Molecular Psychiatry, the study demonstrates how neuropilin2 encodes a receptor involved in brain cell interactions, regulating neural circuit development. Earlier research linked mutations in this gene to neurological disorders, but the mechanisms remained unclear.
Santhakumar, a professor of molecular, cell, and systems biology at the University of California–Riverside, and her collaborators created a mouse model to investigate the impact of deleting neuropilin2. They found that its absence disrupts the balance between excitatory and inhibitory brain signals, causing autism-like behaviours and increasing seizure susceptibility.
The study further revealed that impairing inhibitory regulation during a key developmental window led to social deficits, reduced behavioural flexibility, and higher seizure risks. This suggests that targeting specific stages of neuronal development could open new therapeutic pathways to treat or even prevent these disorders.
“Disrupting inhibitory circuit development is enough to cause autism-related behaviours and epilepsy to co-occur,” Santhakumar said. “Therapeutic strategies focusing on this process may improve outcomes for individuals, particularly those with seizures.”
The research team includes Deepak Subramanian, Andrew Huang, and Samiksha Komatireddy from UC-Riverside, along with collaborators from Rutgers University.
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