Abnormalities of cholesterol metabolism in autism spectrum disorders
Open accessAbstract
Although Smith‐Lemli‐Opitz Syndrome (SLOS), a genetic condition of impaired cholesterol biosynthesis, is associated with autism [Tierney et al., 2001 ; Am J Med Genet 98:191‐200.], the incidence of SLOS and other sterol disorders among individuals with autism spectrum disorders (ASD) is unknown. This study investigated (1) the incidence of biochemically diagnosed SLOS in blood samples from a cohort of subjects with ASD from families in which more than one individual had ASD and (2) the type and incidence of other sterol disorders in the same group. Using gas chromatography/mass spectrometry, cholesterol, and its precursor sterols were quantified in 100 samples from subjects with ASD obtained from the Autism Genetic Resource Exchange (AGRE) specimen repository. Although no sample had sterol levels consistent with SLOS, 19 samples had total cholesterol levels lower than 100 mg/dl, which is below the 5th centile for children over age 2 years. These findings suggest that, in addition to SLOS, there may be other disorders of sterol metabolism or homeostasis associated with ASD. © 2006 Wiley‐Liss, Inc.
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Findings of lipid abnormalities have been inconsistent in reported ASD studies.
“Findings of lipid abnormalities have been inconsistent in reported ASD studies [56–59, 64], although this might be partially due to varying dietary intake in countries where the studies were performed.”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [56]
The Results report low cholesterol in 19 of 100 ASD samples, and the Discussion addresses possible explanations within this cohort. Neither passage compares lipid findings across reported ASD studies or says those findings have been inconsistent; searches for conflicting findings in previous studies found no such passage. (LLM, conf=0.72)
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“This results in reduced cholesterol levels, accompanied by the accumulation of the precursor 7-DHC. SLOS presents with a wide range of phenotypes including microcephaly, structural malformations, intellectual disability and behavioral issues (Bianconi et al., 2015; Lee et al., 2013).”
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Autism spectrum disorder: An omics perspective
Woods, A. G., Wormwood, K. L., Wetie, A. G. N., Aslebagh, R., Crimmins, B. S., Holsen, T. M., & Darie, C. C. (2014) · PROTEOMICS - CLINICAL APPLICATIONS · doi:10.1002/prca.201400116 · Cited by 8 · see citing works
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
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Increased plasma lipoprotein lipase activity in males with autism spectrum disorder
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Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders
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Risk factors in autism spectrum disorder: A Tunisian case-control study
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Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders
Wetie, A. G. N., DeKroon, R. M., Mocanu, M., Ryan, J. P., Darie, C. C., & Woods, A. G. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-06068-2_26 · Cited by 6 · see citing works
- Authors
- Tierney, E., Bukelis, I., Thompson, R. E., Ahmed, K., Aneja, A., Kratz, L., & Kelley, R. I.
- Affiliations
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- Corresponding author
- Tierney, Elaine
- Venue
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Publisher
- Wiley
- Published
- 2006-07-27
- Volume
- 141B
- Issue
- 6
- Pages
- 666-668
- ISSN
- 1552-4841 (ISSN-L)
- 1552-485X
- PMC
- PMC2553243
- OpenAlex
- W2162037295
- Cited by
- 163
- References
- 10
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 8 · 2023: 6 · 2022: 6 · 2021: 14 · 2020: 11 · 2019: 8 · 2018: 7 · 2017: 7 · 2016: 9 · 2015: 6 · 2014: 14 · 2013: 17 · 2012: 10
- FWCI
- 2.91
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (n01mh080011-005)
- National Institute of Mental Health (U54MH066417, 154MH066417, MH 64547, R01MH064547)
- National Institute on Drug Abuse (N01 MH080011)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD24061, P30HD024061)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- autism spectrum disorder, cholesterol metabolism, Smith-Lemli-Opitz syndrome, cholesterol biosynthesis, hypocholesterolemia, sterol homeostasis
- MeSH terms
- Autistic Disorder, Child, Cholesterol, Humans, Gas Chromatography-Mass Spectrometry
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