Stylized brain illustration with dimmed sensory processing circuit and autism puzzle pieces.

Decoding Touch: How a Single Gene Impacts Sensory Perception and Autism

Theo Raines in Mind & Education August 2025 • 5 min read.

"Groundbreaking research reveals SYNGAP1's role in sensory processing deficits, offering new insights into neurodevelopmental disorders and potential therapeutic avenues."

Imagine a world where the gentle brush of a feather feels like sandpaper, or a comforting hug becomes unbearable. For many individuals with neurodevelopmental disorders (NDDs), sensory processing impairments are a daily reality, significantly impacting their ability to navigate and interact with the world around them. While the connection between NDDs and sensory issues has long been observed, the underlying mechanisms remain largely a mystery.

Now, groundbreaking research published in Nature Neuroscience is shedding new light on this complex relationship. Scientists have discovered that mutations in the SYNGAP1 gene, a major risk factor for autism spectrum disorder (ASD) and intellectual disability (ID), directly disrupt sensory processing, specifically the ability to perceive touch accurately. This discovery offers a crucial step towards understanding how genetic factors can shape sensory experiences and contribute to the diverse challenges faced by individuals with NDDs.

The study, led by researchers at Scripps Florida and collaborating institutions, reveals that SYNGAP1 heterozygosity—meaning having one normal and one mutated copy of the gene—leads to reduced activity in specific brain circuits responsible for processing tactile information. This unexpected finding challenges previous assumptions about SYNGAP1's role in neuronal excitability and opens up new avenues for targeted therapies that could alleviate sensory-related difficulties in people with SYNGAP1-related NDDs.

The SYNGAP1 Connection: Unraveling Sensory Processing Deficits

Stylized brain illustration with dimmed sensory processing circuit and autism puzzle pieces.

The Nature Neuroscience study began with a crucial observation: individuals with SYNGAP1 mutations often exhibit tactile-related sensory processing defects. To delve deeper, researchers utilized a SYNGAP1 patient registry, meticulously gathering data on medical histories and sensory function questionnaires. The results were striking: a significant number of individuals with SYNGAP1 mutations displayed abnormal responses to tactile stimuli, ranging from a blunted sensitivity to pain to tactile-seeking or aversive behaviors. This data pointed to a clear link between SYNGAP1 and the way the brain processes touch.

Driven by these findings, the team turned to mouse models of SYNGAP1 haploinsufficiency—mice with one functional copy of the SYNGAP1 gene and one non-functional copy—to investigate the biological mechanisms underlying these sensory processing deficits. The researchers focused on the somatosensory cortex (SSC), the brain region responsible for processing touch information from the body. Using advanced neurophysiological techniques, they mapped the cortical receptive fields of whiskers in the mice, measuring intrinsic optical signals (IOS) generated by whisker deflections. The results revealed a significant reduction in the amplitude of cortical IOS elicited by whisker deflections in SYNGAP1-heterozygous mice (Het mice) compared to wild-type (WT) mice.

This unexpected finding prompted further investigation at the cellular level. The team employed in vivo two-photon imaging to measure spike-like suprathreshold somatic calcium events in layer (L) 2/3 SSC neurons, a type of neuron known to integrate sensory signals with information from higher cortical areas. The experiments revealed that: Neurons in L2/3 SSC of Het mice were less active than those in WT mice. Het mice had significantly smaller and less numerous events compared to WT neurons. Paralyzing whiskers with Botox in WT mice shifted neuronal activity to mirror activity in Het mice

This data indicated that whisker movements and touch drove significantly less activity in Het mice. Subsequent tests were performed with passive whisker deflections using piezo-driven stimulation. These tests validated prior conclusions, whisker bending through passive deflections also resulted in reduced activity within SSC of SYNGAP1 mice.

New Avenues for Understanding and Treating Sensory Dysfunction

This study provides compelling evidence that SYNGAP1 plays a critical role in shaping sensory processing and underscores the importance of considering sensory dysfunction as a core feature of SYNGAP1-related NDDs. By pinpointing the specific brain circuits and cellular mechanisms involved, this research opens up new avenues for developing targeted therapies to alleviate sensory-related difficulties in individuals with SYNGAP1 mutations and other NDDs. Future research will focus on understanding how these sensory circuit disruptions contribute to the broader cognitive and behavioral challenges associated with these disorders and exploring potential interventions to restore normal sensory function.

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This article is based on research published under:

DOI-LINK: 10.1038/s41593-018-0268-0, Alternate LINK

Title: Syngap1 Heterozygosity Disrupts Sensory Processing By Reducing Touch-Related Activity Within Somatosensory Cortex Circuits

Subject: General Neuroscience

Journal: Nature Neuroscience

Publisher: Springer Science and Business Media LLC

Authors: Sheldon D. Michaelson, Emin D. Ozkan, Massimiliano Aceti, Sabyasachi Maity, Nerea Llamosas, Monica Weldon, Elisa Mizrachi, Thomas Vaissiere, Michael A. Gaffield, Jason M. Christie, J. Lloyd Holder, Courtney A. Miller, Gavin Rumbaugh

Published: 2018-11-21

Everything You Need To Know

How do mutations in the SYNGAP1 gene affect sensory processing, particularly concerning touch?

Mutations in the SYNGAP1 gene disrupt sensory processing, especially the ability to perceive touch accurately. The research indicates that SYNGAP1 heterozygosity, having one normal and one mutated copy of the gene, leads to reduced activity in specific brain circuits responsible for processing tactile information. This contrasts with previous assumptions about SYNGAP1's role in neuronal excitability and highlights its direct impact on sensory perception, contributing to sensory issues observed in neurodevelopmental disorders.

What connection has been found between the SYNGAP1 gene, autism spectrum disorder (ASD), and intellectual disability (ID) concerning sensory processing?

Research demonstrates that the SYNGAP1 gene, already identified as a major risk factor for Autism Spectrum Disorder (ASD) and Intellectual Disability (ID), directly disrupts sensory processing. Individuals with SYNGAP1 mutations exhibit abnormal responses to tactile stimuli, ranging from blunted sensitivity to pain to tactile-seeking or aversive behaviors. This link suggests that SYNGAP1 plays a crucial role in shaping sensory experiences and underscores the importance of considering sensory dysfunction as a core feature of SYNGAP1-related neurodevelopmental disorders.

In what specific brain region does SYNGAP1 influence tactile information processing, and how was this discovered?

SYNGAP1 influences tactile information processing specifically within the somatosensory cortex (SSC), the brain region responsible for processing touch information from the body. This was discovered using mouse models of SYNGAP1 haploinsufficiency, where researchers mapped the cortical receptive fields of whiskers. They measured intrinsic optical signals (IOS) generated by whisker deflections and found a significant reduction in the amplitude of cortical IOS in SYNGAP1-heterozygous mice compared to wild-type mice, indicating reduced activity within the SSC due to SYNGAP1 mutations.

What cellular mechanisms within the somatosensory cortex are affected by SYNGAP1 mutations, and what do these changes imply about sensory processing?

At the cellular level, SYNGAP1 mutations affect the activity of neurons in layer (L) 2/3 of the somatosensory cortex (SSC). These neurons, which integrate sensory signals with information from higher cortical areas, were found to be less active in SYNGAP1-heterozygous mice. Specifically, these mice had significantly smaller and less numerous spike-like suprathreshold somatic calcium events, indicating that whisker movements and touch drove significantly less activity in the SSC. This reduced neuronal activity suggests that SYNGAP1 is crucial for the proper integration and processing of sensory information within the cortex.

Given the discovery of SYNGAP1's role in sensory processing, what are the potential implications for developing treatments for sensory dysfunction in neurodevelopmental disorders?

The discovery that SYNGAP1 plays a critical role in shaping sensory processing opens new avenues for developing targeted therapies to alleviate sensory-related difficulties in individuals with SYNGAP1 mutations and other neurodevelopmental disorders (NDDs). By pinpointing the specific brain circuits and cellular mechanisms involved, research can now focus on interventions to restore normal sensory function. Future studies will aim to understand how these sensory circuit disruptions contribute to broader cognitive and behavioral challenges associated with NDDs, potentially leading to treatments that address both sensory and other related symptoms. An area not covered in the research is if the introduction of a non mutated gene can restore sensory processing.