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10.1038_s41380-022-01506-w.pdf (2.15 MB)

Genetics of glutamate and its receptors in autism spectrum disorder

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journal contribution
posted on 2022-11-22, 21:16 authored by Sabah Nisar, Ajaz A. Bhat, Tariq Masoodi, Sheema Hashem, Sabah Akhtar, Tayyiba Akbar Ali, Sara Amjad, Sanjeev Chawla, Puneet Bagga, Michael P. Frenneaux, Ravinder Reddy, Khalid Fakhro, Mohammad Haris

Autism spectrum disorder (ASD) is a neurodevelopmental impairment characterized by deficits in social interaction skills, impaired communication, and repetitive and restricted behaviors that are thought to be due to altered neurotransmission processes. The amino acid glutamate is an essential excitatory neurotransmitter in the human brain that regulates cognitive functions such as learning and memory, which are usually impaired in ASD. Over the last several years, increasing evidence from genetics, neuroimaging, protein expression, and animal model studies supporting the notion of altered glutamate metabolism has heightened the interest in evaluating glutamatergic dysfunction in ASD. Numerous pharmacological, behavioral, and imaging studies have demonstrated the imbalance in excitatory and inhibitory neurotransmitters, thus revealing the involvement of the glutamatergic system in ASD pathology. Here, we review the effects of genetic alterations on glutamate and its receptors in ASD and the role of non-invasive imaging modalities in detecting these changes. We also highlight the potential therapeutic targets associated with impaired glutamatergic pathways.

Other Information

Published in: Molecular Psychiatry
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  • English


Springer Science and Business Media LLC

Publication Year

  • 2022

Institution affiliated with

  • Sidra Medical and Research Center

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