Plasma Oxysterol Profiling in Children Reveals 24-Hydroxycholesterol as a Potential Marker for Autism Spectrum Disorders
Abstract
Cholesterol and its oxygenated metabolites, such as oxysterols, are intensively investigated as potential players in the pathophysiology of brain disorder. Altered oxysterol levels have been described in patients with numerous neuropsychiatric disorders, including Alzheimer's disease, Amyotrophic Lateral Sclerosis, Parkinson's disease, X-linked adrenoleukodystrophy, and Smith-Lemli-Opitz Syndrome. Recent studies have shown that Autism Spectrum Disorders are associated with disruption of cholesterol metabolism. The present study aimed at investigating the profile of oxysterols in plasma and their association with clinical parameters in patients with Autism Spectrum Disorders. Thirty-six children with Autism Spectrum Disorders and thirty-eight healthy children, from Sfax (a southern area of Tunisia) matched for age and sex, were included in the study. The severity of Autism Spectrum Disorders was evaluated using the childhood autism rating scale. Standard lipid profile (total cholesterol, triglycerides, and high-density lipoprotein-cholesterol), serum glucose, high-sensitive C-reactive protein and orosomucoid levels were measured utilizing standard techniques. Oxysterol levels were measured by isotope-dilution gas chromatography/mass spectrometry. Standard lipid profile, serum glucose, high-sensitive C-reactive protein and orosomucoid levels were similar between the two studied populations. Compared to the control group, children with Autism Spectrum Disorders showed a signific…
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Modulation of CYP46A1 has been indirectly demonstrated in autistic children, who showed higher plasma 24 HC levels, which progressively decreased with age.
“Interestingly, modulation of CYP46A1 has been indirectly demonstrated in autistic children, who showed higher plasma 24 HC levels, which progressively decreased with age [49].”
From Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome (2022) · cites this paper as [49]
Cites
Abnormalities of cholesterol metabolism in autism spectrum disorders
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Can Cholesterol Metabolism Modulation Affect Brain Function and Behavior?
Cartocci, V., Servadio, M., Trezza, V., & Pallottini, V. (2017) · Journal of Cellular Physiology · doi:10.1002/jcp.25488 · Cited by 77 · see citing works
Gillberg, C., Fernell, E., Kočovská, E., Minnis, H., Bourgeron, T., Thompson, L., & Allely, C. S. (2017) · Autism Research · doi:10.1002/aur.1777 · Cited by 65 · see citing works
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Dargenio, V. N., Dargenio, C., Castellaneta, S., De Giacomo, A., Laguardia, M., Schettini, F., Francavilla, R., & Cristofori, F. (2023) · Nutrients · doi:10.3390/nu15071620 · Cited by 98 · see citing works
Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome
Parente, M., Tonini, C., Buzzelli, V., Carbone, E., Trezza, V., & Pallottini, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23063408 · Cited by 11 · see citing works
“Interestingly, modulation of CYP46A1 has been indirectly demonstrated in autistic children, who showed higher plasma 24 HC levels, which progressively decreased with age [49].”
BackgroundPlasma oxysterols in drug-free patients with schizophrenia
Guidara, W., Messedi, M., Naifar, M., Maalej, M., Khrouf, W., Grayaa, S., Maalej, M., Bonnefont-Rousselot, D., Lamari, F., & Ayadi, F. (2022) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2022.106123 · Cited by 11 · see citing works
Self-citation
- Authors
- Grayaa, S., Zerbinati, C., Messedi, M., HadjKacem, I., Chtourou, M., Ben Touhemi, D., Naifar, M., Ayadi, H., Ayedi, F., & Iuliano, L.
- Affiliations
- University of Sfax (TN)
- University of Rome Tor Vergata (IT)
- Corresponding author
- Grayaa, S.
- Iuliano, L.
- Venue
- Biochimie
- Publisher
- Elsevier BV
- Published
- 2018-10
- Volume
- 153
- Pages
- 80-85
- ISSN
- 0037-9042 (ISSN-L)
- 0300-9084
- OpenAlex
- W2799612996
- Cited by
- 56
- References
- 3
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 6 · 2023: 10 · 2022: 6 · 2021: 12 · 2020: 7 · 2019: 4 · 2018: 1
- FWCI
- 3.57
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochimie (publishedVersion)
- PubMed (publishedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Funders
- Ministry of Higher Education and Scientific Research
- Ministry of Health
- University of Rome
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- autism spectrum disorder, oxysterols, 24S-hydroxycholesterol, plasma biomarkers, cholesterol metabolism, 7α-hydroxycholesterol, 25-hydroxycholesterol, diagnostic biomarkers, children, lipid profile, C-reactive protein, alpha-1-acid glycoprotein
- MeSH terms
- Oxysterols, Autistic Disorder, Child, Child, Preschool, Female, Humans, Hydroxycholesterols, Male, Risk Factors, Biomarkers
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