ArticleMetabolomics : Official journal of the Metabolomic Society2020
Targeted metabolomics highlights perturbed metabolism in the brain of autism spectrum disorder sufferers.
Article in Metabolomics : Official journal of the Metabolomic Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Healing from the Ocean: Targeting Shared Mechanisms in Autism and Epilepsy Using Algae-Derived Compounds.Marine drugs · 2026Review
- Knockdown of Ddx3x in mPFC induces autistic-like phenotype in mice via altered synaptic plasticity.Translational psychiatry · 2026Article
- Metabolic dynamics in astrocytes and microglia during post-natal development and their implications for autism spectrum disorders.Frontiers in cellular neuroscience · 2024Review
- Exogenous ketone bodies and the ketogenic diet as a treatment option for neurodevelopmental disorders.Frontiers in nutrition · 2024Review
- A most important gift: the critical role of postmortem brain tissue in autism science.Frontiers in neurology · 2024Article
- Systematic bibliometric and visualized analysis of research hotspots and trends in artificial intelligence in autism spectrum disorder.Frontiers in neuroinformatics · 2023Article
- Article
- Metabolomic Signatures of Autism Spectrum Disorder.Journal of personalized medicine · 2022Article
- Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis.Metabolites · 2022Article
- Integration of Urine Proteomic and Metabolomic Profiling Reveals Novel Insights Into Neuroinflammation in Autism Spectrum Disorder.Frontiers in psychiatry · 2022Article
- Article
- Comparison of Kit-Based Metabolomics with Other Methodologies in a Large Cohort, towards Establishing Reference Values.Metabolites · 2021Article
- Quantitative NMR-Based Biomedical Metabolomics: Current Status and Applications.Molecules (Basel, Switzerland) · 2020Review
- The Biochemical Profile of Post-Mortem Brain from People Who Suffered from Epilepsy Reveals Novel Insights into the Etiopathogenesis of the Disease.Metabolites · 2020Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
introductionAutism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by deficiencies in social interactions and communication, combined with restricted and repetitive behavioral issues.
objectivesAs little is known about the etiopathophysiology of ASD and early diagnosis is relatively subjective, we aim to employ a targeted, fully quantitative metabolomics approach to biochemically profile post-mortem human brain with the overall goal of identifying metabolic pathways that may have been perturbed as a result of the disease while uncovering potential central diagnostic biomarkers.
methodsUsing a combination of
resultsWe accurately identified and quantified 203 metabolites in post-mortem brain extracts and performed a metabolite set enrichment analyses identifying 3 metabolic pathways as significantly perturbed (p < 0.05). These include Pyrimidine, Ubiquinone and Vitamin K metabolism. Further, using a variety of machine-based learning algorithms, we identified a panel of central biomarkers (9-hexadecenoylcarnitine (C16:1) and the phosphatidylcholine PC ae C36:1) capable of discriminating between ASD and controls with an AUC = 0.855 with a sensitivity and specificity equal to 0.80 and 0.818, respectively.
conclusionFor the first time, we report the use of a multi-platform metabolomics approach to biochemically profile brain from people with ASD and report several metabolic pathways which are perturbed in the diseased brain of ASD sufferers. Further, we identified a panel of biomarkers capable of distinguishing ASD from control brains. We believe that these central biomarkers may be useful for diagnosing ASD in more accessible biomatrices.
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