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Plasma metabolomic profiling of individuals with autism spectrum disorder and their family members.

ABSTRACT: Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting 2.3% of 8-year-old children and is attributable to polygenic risks in most cases. Gene discovery studies catalogued >1000 genes with de novo, rare and common genetic variants that are likely associated with ASD; however, the candidate genes are rarely translated to diagnostic and treatment biomarkers. As such no pharmacological treatment option is available for targeting core symptoms. Neural circuits involved in verbal/nonverbal communications and social interaction are likely changed, which may be caused by an excitatory-inhibitory (E-I) imbalance in individuals with ASD. To date, clinical trials targeting excitatory glutamatergic or inhibitory GABAergic receptors showed mixed results. These early clinical trials highlight the unmet need of biomarkers for target populations and outcome indicators. We investigated whether plasma biomarkers would be associated with genetic risk factors and core symptoms of ASD. Plasma samples were collected for metabolomics profiling from the Autism Genetics Resource Exchange (AGRE). Detailed phenotype information is available at NIMH Data Archive (Collection ID: 4214) and can be accessed using NDAR GUID for the individuals.

ORGANISM(S): Human Homo Sapiens

TISSUE(S): Blood

DISEASE(S): Autism

SUBMITTER: Sek Won Kong

PROVIDER: ST002332 | MetabolomicsWorkbench | Fri Oct 14 00:00:00 BST 2022

REPOSITORIES: MetabolomicsWorkbench

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