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A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder

Purushotham, SS and Reddy, NMN and D’Souza, MN and Choudhury, NR and Ganguly, A and Gopalakrishna, N and Muddashetty, R and Clement, JP (2022) A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder. In: Experimental Brain Research .

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Official URL: https://doi.org/10.1007/s00221-022-06448-x


Intellectual disability (ID) and autism spectrum disorder (ASD) are neurodevelopmental disorders that have become a primary clinical and social concern, with a prevalence of 2–3% in the population. Neuronal function and behaviour undergo significant malleability during the critical period of development that is found to be impaired in ID/ASD. Human genome sequencing studies have revealed many genetic variations associated with ASD/ID that are further verified by many approaches, including many mouse and other models. These models have facilitated the identification of fundamental mechanisms underlying the pathogenesis of ASD/ID, and several studies have proposed converging molecular pathways in ASD/ID. However, linking the mechanisms of the pathogenic genes and their molecular characteristics that lead to ID/ASD has progressed slowly, hampering the development of potential therapeutic strategies. This review discusses the possibility of recognising the common molecular causes for most ASD/ID based on studies from the available models that may enable a better therapeutic strategy to treat ID/ASD. We also reviewed the potential biomarkers to detect ASD/ID at early stages that may aid in diagnosis and initiating medical treatment, the concerns with drug failure in clinical trials, and developing therapeutic strategies that can be applied beyond a particular mutation associated with ASD/ID.

Item Type: Journal Article
Publication: Experimental Brain Research
Publisher: Springer Science and Business Media Deutschland GmbH
Additional Information: The copyright for this article belongs to Springer Science and Business Media Deutschland GmbH.
Keywords: Autism spectrum disorder; Biomarkers; Drug repurposing; Fmr1; Mecp2; Neurexin; Neuroligin; Shank; Syngap1
Department/Centre: Autonomous Societies / Centres > Centre for Brain Research
Date Deposited: 06 Oct 2022 08:35
Last Modified: 06 Oct 2022 08:35
URI: https://eprints.iisc.ac.in/id/eprint/77152

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