Cited by 39Autism Spectrum Disorder ResearchFatty Acid Research and HealthChild Nutrition and Feeding Issues

The Role of Cholesterol and Fatty Acids in the Etiology and Diagnosis of Autism Spectrum Disorders

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Esposito, Cecilia Maria, Buoli, Massimiliano, Ciappolino, Valentina, Agostoni, Carlo, Brambilla, Paolo·2021·International Journal of Molecular Sciences

Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders whose pathogenesis seems to be related to an imbalance of excitatory and inhibitory synapses, which leads to disrupted connectivity during brain development. Among the various biomarkers that have been evaluated in the last years, metabolic factors represent a bridge between genetic vulnerability and environmental aspects. In particular, cholesterol homeostasis and circulating fatty acids seem to be involved in the pathogenesis of ASDs, both through the contribute in the stabilization of cell membranes and the modulation of inflammatory factors. The purpose of the present review is to summarize the available data about the role of cholesterol and fatty acids, mainly long-chain ones, in the onset of ASDs. A bibliographic research on the main databases was performed and 36 studies were included in our review. Most of the studies document a correlation between ASDs and hypocholesterolemia, while the results concerning circulating fatty acids are less univocal. Even though further studies are necessary to confirm the available data, the metabolic biomarkers open to new treatment options such as the modulation of the lipid pattern through the diet.

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  • Cholesterol homeostasis is dysregulated in many syndromes associated with autism spectrum disorder, including fragile X syndrome.

    “Cholesterol homeostasis is dysregulated in many syndromes associated with autism spectrum disorder (ASD), including fragile X syndrome (FXS)11.”

    From An iPSC-derived astrocyte model of fragile X syndrome exhibits dysregulated cholesterol homeostasis (2023) · cites this paper as [11]

    The Introduction and Results §3.1 link disrupted cholesterol metabolism to ASD and identify Smith–Lemli–Opitz syndrome as an associated condition with impaired cholesterol biosynthesis. They do not establish the claim for many ASD-associated syndromes or for fragile X syndrome specifically; a search for fragile X/FXS found no supporting passage. (LLM, conf=0.88)

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Authors
Esposito, C. M., Buoli, M., Ciappolino, V., Agostoni, C., & Brambilla, P.
Affiliations
  • University of Milan (IT)
  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
Corresponding author
Agostoni, Carlo
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2021-03-29
Volume
22
Issue
7
Pages
3550
ISSN
1422-0067 (ISSN-L)
OpenAlex
W3144905200
Cited by
39
References
88
Citations by year
2026: 3 · 2025: 10 · 2024: 11 · 2023: 8 · 2022: 4 · 2021: 3
FWCI
0.95
Type
journal article
Language
en
Open access
Locations
  • International Journal of Molecular Sciences (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Health Sciences › Nursing › Nutrition and Dietetics › Fatty Acid Research and Health
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Keywords
autism spectrum disorder, cholesterol, long-chain fatty acids, hypocholesterolemia, circulating fatty acids, cholesterol homeostasis, metabolic biomarkers, excitation-inhibition balance, neurodevelopmental disorders, inflammation
MeSH terms
Autism Spectrum Disorder, Cholesterol, Fatty Acids, Humans

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