Hypothesis: The Role of Sterols in Autism Spectrum Disorder
Open accessAbstract
A possible role for sterols in the development of autism spectrum disorder (ASD) has not been proven, but studies in disorders of sterol biosynthesis, chiefly Smith-Lemli-Opitz syndrome (SLOS), enable hypotheses on a causal relationship to be discussed. Advances in genetic technology coupled with discoveries in membrane physiology have led to renewed interest for lipids in the nervous system. This paper hypothesizes on the role of sterol dysfunction in ASD through the framework of SLOS. Impaired sonic hedgehog patterning, alterations in membrane lipid rafts leading to abnormal synaptic plasticity, and impaired neurosteroid synthesis are discussed. Potential therapeutic agents include the development of neuroactive steroid-based agents and enzyme-specific drugs. Future investigations should reveal the specific mechanisms underlying sterol dysfunction in neurodevelopmental disorders by utilizing advanced imaging and molecular techniques.
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Decreased neuroactive steroid levels and sterol-related abnormal levels of cortisol, testosterone, estrogen, progesterone, and vitamin D have been reported in ASD.
“Decreased neuroactive steroid levels [11] and sterol-related abnormal levels of cortisol, testosterone, estrogen, progesterone, and vitamin D have been reported in ASD [12–14].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [13]
Section 4, “Neurosteroids and ASD” (page unavailable), discusses possible altered neurosteroid synthesis in Smith-Lemli-Opitz syndrome, not reported levels of the five named substances in ASD. A search for cortisol, testosterone, estrogen, progesterone, and vitamin D found no passage in our copy reporting those abnormalities in ASD. The separate claim about decreased neuroactive steroids carries a different citation [11]. (LLM, conf=0.76)
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References 85 · Cited by 30
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- Authors
- Lee, R. W. Y., & Tierney, E.
- Affiliations
- Kennedy Krieger Institute (US)
- Corresponding author
- Tierney, Elaine
- Venue
- Autism Research and Treatment
- Publisher
- Wiley
- Published
- 2011
- Volume
- 2011
- Pages
- 1-7
- ISSN
- 2090-1925 (ISSN-L)
- 2090-1933
- PMC
- PMC3420784
- OpenAlex
- W2074865927
- Cited by
- 30
- References
- 85
- Citations by year
- 2024: 1 · 2023: 1 · 2021: 2 · 2020: 5 · 2019: 4 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 5 · 2013: 4 · 2012: 2
- FWCI
- 1.79
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Autism Research and Treatment (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Lipid Membrane Structure and Behavior
- Keywords
- autism spectrum disorder, sterols, Smith-Lemli-Opitz syndrome, sterol biosynthesis, lipid rafts, synaptic plasticity, neurosteroid synthesis, neurosteroids, neurodevelopmental disorders
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