Metabolome signature of autism in the human prefrontal cortex
Open accessAbstract
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with yet incompletely uncovered molecular determinants. Alterations in the abundance of low molecular weight compounds (metabolites) in ASD could add to our understanding of the disease. Indeed, such alterations take place in the urine, plasma and cerebellum of ASD individuals. In this work, we investigated mass-spectrometric signal intensities of 1,366 metabolites in the prefrontal cortex grey matter of 32 ASD and 40 control individuals. 15% of these metabolites showed significantly different intensities in ASD and clustered in 16 metabolic pathways. Of them, ten pathways were altered in urine and blood of ASD individuals (Fisher test, p < 0.05), opening an opportunity for the design of new diagnostic instruments. Furthermore, metabolic measurements conducted in 40 chimpanzees and 40 macaques showed an excess of metabolite intensity differences unique to humans, supporting the hypothesized disruption of evolutionary novel cortical mechanisms in ASD.
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There appears to be a major change in the levels of various metabolites in the PFC of autistic individuals.
“A new and interesting finding is that there appears to be a major change in the levels of various metabolites in the PFC of autistic individuals [379].”
From Development of prefrontal cortex (2022) · cites this paper as [379]
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Development of prefrontal cortex
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“A new and interesting finding is that there appears to be a major change in the levels of various metabolites in the PFC of autistic individuals [379].”
Background
- Authors
- Kurochkin, I., Khrameeva, E., Tkachev, A., Stepanova, V., Vanyushkina, A., Stekolshchikova, E., Li, Q., Zubkov, D., Shichkova, P., Halene, T., Willmitzer, L., Giavalisco, P., Akbarian, S., & Khaitovich, P.
- Affiliations
- Skolkovo Institute of Science and Technology (RU)
- Chinese Academy of Sciences (CN)
- Icahn School of Medicine at Mount Sinai (US)
- Max Planck Institute of Molecular Plant Physiology (DE)
- Max Planck Institute for Biology of Ageing (DE)
- Corresponding author
- Akbarian, Schahram
- Khaitovich, Philipp
- ORCID
- Venue
- Communications Biology
- Published
- 2019-06-21
- Volume
- 2
- Issue
- 1
- Pages
- 234-234
- ISSN
- 2399-3642 (ISSN-L)
- PMC
- PMC6588695
- OpenAlex
- W2951672526
- Cited by
- 57
- References
- 61
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 7 · 2023: 6 · 2022: 14 · 2021: 10 · 2020: 8 · 2019: 2
- FWCI
- 4.94
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Communications Biology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- National Natural Science Foundation of China (2017YFA0505700, 91331203, 31420103920)
- Universität Zürich
- Russian Science Foundation (16-14-00220)
- Skolkovo Institute of Science and Technology
- National Institute of Neurological Disorders and Stroke (R24NS092988)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, prefrontal cortex, metabolome, brain metabolites, metabolic pathways, diagnostic biomarkers, chimpanzees, macaque, human evolution, cortical evolution, neurodevelopmental disorders
- MeSH terms
- Machine Learning, Animals, Autistic Disorder, Pan troglodytes, Humans, Macaca mulatta, Prefrontal Cortex, Evolution, Molecular, Metabolic Networks and Pathways, Metabolome, Gray Matter
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