Alterations of perineuronal net expression and abnormal social behavior and whisker-dependent texture discrimination in mice lacking the autism candidate gene Engrailed 2



Autism spectrum disorder (ASD) affects millions of people worldwide, impacting how they interact with the world and experience social situations. While the causes of ASD remain a complex puzzle, researchers are continuously piecing together the picture. A recent study published in March 2024 in the journal Neuroscience offers a fascinating glimpse into a potential link between a specific gene, Engrailed 2 (En2), specialized structures in the brain called perineuronal nets (PNNs), and social and sensory aspects of ASD in mice. This blog post delves deeper into the research, exploring its findings and implications for future understanding of ASD.


Engrailed 2: A Candidate Gene in the ASD Equation


The Engrailed 2 gene (En2) has emerged as a strong candidate gene for ASD. This means that variations in this gene have been statistically linked to a higher likelihood of developing ASD in humans. By studying the function of En2 in mice, researchers can gain valuable insights into how it might contribute to the disorder.


Perineuronal Nets: Orchestrating the Brain’s Symphony


Perineuronal nets (PNNs) are intricate structures surrounding specific neurons in the brain. These nets are like conductors in an orchestra, regulating the communication between neurons and influencing the brain’s plasticity – its ability to adapt and learn throughout life. PNNs are thought to play a critical role in various brain functions, including memory, learning, and sensory processing.


Decoding the Connections: En2, PNNs, and Behavioral Deficits


The researchers conducted their investigation using mice genetically modified to lack the En2 gene. They observed significant behavioral and neurological differences in these En2-deficient mice compared to their normal counterparts. Here’s a breakdown of the key findings:

  • Social Withdrawal: En2-deficient mice displayed a marked decrease in social interactions with other mice. This suggests a potential role of En2 in regulating social behaviors, which are often impaired in individuals with ASD.
  • Whisker Woes: Mice rely on their whiskers to navigate their surroundings and distinguish textures. The En2-deficient mice exhibited difficulties in discriminating between different textures using their whiskers. This finding highlights a potential link between En2 and specific sensory processing mechanisms.
  • PNN Disruption: The study revealed a crucial connection between En2 and PNNs. The researchers observed a decrease in the density of PNNs surrounding certain neurons in the brains of En2-deficient mice. This disruption in PNN structure could be a contributing factor to the social and sensory impairments observed in these mice.


Unveiling a Potential Pathway: En2, PNNs, and the Path to New Therapies


These findings offer a compelling piece of the ASD puzzle. They suggest that the En2 gene might play a crucial role in regulating social behavior, sensory perception, and the development and function of PNNs. The observed changes in PNNs in En2-deficient mice could potentially underlie the social and sensory difficulties seen in ASD.


This research paves the way for further exploration. Future studies could investigate:

  • The specific mechanisms by which En2 regulates PNN development and function
  • Whether similar changes in En2 and PNNs are observed in humans with ASD
  • The potential of targeting En2 or PNNs for therapeutic interventions in ASD


By unraveling the intricate connections between genes, brain structures, and behavior, researchers are moving closer to developing new diagnostic tools and effective treatments for ASD.


Beyond the Bench: Hope for the Future of ASD Management


This research holds significant promise for the future of ASD management. By understanding the underlying biological mechanisms, scientists can develop more targeted diagnostic tools to identify ASD earlier and more effectively. Additionally, the potential link between En2 and PNNs opens doors for exploring novel therapeutic approaches. Therapies aimed at regulating En2 function or restoring PNN integrity could offer new avenues for improving social skills, sensory processing, and overall quality of life for individuals with ASD.


It’s important to remember that this is a recent study, and further research is needed to confirm and expand upon these findings. However, it represents a significant step forward in our understanding of the complex biological underpinnings of ASD. With continued research and collaboration, the scientific community is moving closer to unlocking the mysteries of ASD and offering new hope for those affected by this condition.



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