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Researchers identify distinct molecular pattern in autistic brains through imaging study
Recent research conducted at Yale School of Medicine has uncovered the first measurable molecular distinction in the brains of individuals with autism, revealing about 15 percent fewer glutamate receptors compared to neurotypical participants. The discovery, published in The American Journal of Psychiatry, could reshape both diagnosis and treatment approaches for autism spectrum disorder.
Molecular difference linked to glutamate receptors
The study involved 16 adults with autism and 16 neurotypical adults aged between 18 and 36. Using positron emission tomography and electroencephalography, scientists measured levels of metabotropic glutamate receptor 5 (mGlu5) across several brain regions. Results showed consistently lower mGlu5 availability in those with autism, particularly in the cerebral cortex.
According to researchers, this reduction supports the long-standing excitatory-inhibitory imbalance theory, which suggests that autism arises from disrupted communication between stimulating and inhibiting brain signals. Glutamate, the primary excitatory neurotransmitter, plays a key role in maintaining this neurological balance. Reduced receptor activity could help explain certain sensory and behavioral patterns seen in autistic individuals.
Insights supporting the excitatory-inhibitory imbalance theory
Further analysis revealed a strong correlation between receptor levels and brain wave patterns recorded through EEG. A correlation of 0.67 was found in the cerebral cortex, indicating that reduced mGlu5 receptor availability corresponded with altered electrical activity. This direct neurochemical evidence strengthens previous hypotheses based on behavioral and genetic observations.
Lead researcher Adam Naples, assistant professor at Yale’s Child Study Center, emphasized that the findings represent a biological window into autism’s underlying mechanisms rather than surface-level behavior. Co-principal investigator James McPartland noted that it offers a measurable framework for understanding autism in more precise, physiological terms.
Towards objective diagnosis and future treatment
Today, autism is diagnosed primarily through behavioral assessments. McPartland explained that identifying a quantifiable brain difference marks a turning point in how clinicians could approach diagnosis. Researchers believe that the discovery might pave the way for new therapies targeting mGlu5 receptors. While not all autistic individuals require or seek medication, such treatments could address symptoms that interfere with daily functioning.
Co-investigator David Matuskey pointed out that EEG measurements could eventually offer a more accessible and affordable diagnostic tool compared to PET scans, which are costly and limited to specialized facilities. The study, however, focused exclusively on adults with average or above-average cognitive ability. Future projects aim to expand the research to children, adolescents, and individuals with intellectual disabilities for a more comprehensive understanding of autism’s biological foundations.
