Abnormalities of cholesterol metabolism in autism spectrum disorders

Elaine Tierney, Irena Bukelis, Richard Thompson, Khalid Ahmed, Alka Aneja, Lisa Kratz, Richard I. Kelley

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)666-668
Number of pages3
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume141
Issue number6
DOIs
StatePublished - Sep 5 2006

Fingerprint

Smith-Lemli-Opitz Syndrome
Sterols
Cholesterol
Autistic Disorder
Incidence
Viverridae
Gas Chromatography-Mass Spectrometry
Homeostasis
Autism Spectrum Disorder

Keywords

  • Asperger disorder
  • Autism Genetic Resource Exchange
  • Hypocholesterolemia
  • Pervasive developmental disorder
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Abnormalities of cholesterol metabolism in autism spectrum disorders. / Tierney, Elaine; Bukelis, Irena; Thompson, Richard; Ahmed, Khalid; Aneja, Alka; Kratz, Lisa; Kelley, Richard I.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 141, No. 6, 05.09.2006, p. 666-668.

Research output: Contribution to journalArticle

@article{231ea6e623454c639e9e286707acddce,
title = "Abnormalities of cholesterol metabolism in autism spectrum disorders",
abstract = "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.",
keywords = "Asperger disorder, Autism Genetic Resource Exchange, Hypocholesterolemia, Pervasive developmental disorder, Smith-Lemli-Opitz syndrome",
author = "Elaine Tierney and Irena Bukelis and Richard Thompson and Khalid Ahmed and Alka Aneja and Lisa Kratz and Kelley, {Richard I.}",
year = "2006",
month = "9",
day = "5",
doi = "10.1002/ajmg.b.30368",
language = "English (US)",
volume = "141",
pages = "666--668",
journal = "American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics",
issn = "1552-4841",
publisher = "Wiley-Liss Inc.",
number = "6",

}

TY - JOUR

T1 - Abnormalities of cholesterol metabolism in autism spectrum disorders

AU - Tierney, Elaine

AU - Bukelis, Irena

AU - Thompson, Richard

AU - Ahmed, Khalid

AU - Aneja, Alka

AU - Kratz, Lisa

AU - Kelley, Richard I.

PY - 2006/9/5

Y1 - 2006/9/5

N2 - 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.

AB - 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.

KW - Asperger disorder

KW - Autism Genetic Resource Exchange

KW - Hypocholesterolemia

KW - Pervasive developmental disorder

KW - Smith-Lemli-Opitz syndrome

UR - http://www.scopus.com/inward/record.url?scp=33748928152&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748928152&partnerID=8YFLogxK

U2 - 10.1002/ajmg.b.30368

DO - 10.1002/ajmg.b.30368

M3 - Article

C2 - 16874769

AN - SCOPUS:33748928152

VL - 141

SP - 666

EP - 668

JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

SN - 1552-4841

IS - 6

ER -