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Single nucleotide variations encoding missense mutations in G protein-coupled receptors may contribute to autism.
  • Emma Therese Van Der Westhuizen
Emma Therese Van Der Westhuizen
Monash University - Parkville Campus

Corresponding Author:[email protected]

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Autism is a neurodevelopmental condition with a range of symptoms that vary in intensity and severity from person to person. Genetic sequencing has identified thousands of genes containing mutations in autistic individuals, which may contribute to the development of autistic symptoms. Several of these genes encode G protein-coupled receptors (GPCRs) which are cell surface expressed proteins that transduce extracellular messages to the intracellular space. Mutations in GPCRs can impact their function, resulting in aberrant signalling within cells, and across neurotransmitter systems in the brain. This review summarises the current knowledge on autism-associated single nucleotide variations encoding missense mutations in GPCRs, and the impact of these genetic mutations on GPCR function. For some autism-associated mutations, changes in GPCR expression levels, ligand affinity, potency and efficacy have been observed; however, for many the functional consequences remain unknown. Thus, further work to characterise the functional impacts of the genetically identified mutations is required.
23 Sep 2022Submitted to British Journal of Pharmacology
28 Sep 2022Submission Checks Completed
28 Sep 2022Assigned to Editor
30 Sep 2022Reviewer(s) Assigned
25 Oct 2022Review(s) Completed, Editorial Evaluation Pending
27 Oct 2022Editorial Decision: Revise Minor
16 Dec 20221st Revision Received
22 Dec 2022Submission Checks Completed
22 Dec 2022Assigned to Editor
16 Jan 2023Reviewer(s) Assigned
30 Jan 2023Review(s) Completed, Editorial Evaluation Pending
04 Feb 2023Editorial Decision: Accept