Abnormalities of cholesterol metabolism in autism spectrum disorders

被引:101
作者
Tierney, Elaine
Bukelis, Irena
Thompson, Richard E.
Ahmed, Khalid
Aneja, Alka
Kratz, Lisa
Kelley, Richard I.
机构
[1] Kennedy Krieger Inst, Baltimore, MD 21211 USA
[2] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA
[3] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21205 USA
[4] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA
[5] Johns Hopkins Univ, Sch Med, Dept Genet, Baltimore, MD 21205 USA
关键词
Smith-Lemli-Opitz Syndrome; hypocholesterolemia; Autism Genetic Resource Exchange; Asperger disorder; pervasive developmental disorder;
D O I
10.1002/ajmg.b.30368
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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. (c) 2006 Wiley-Liss, Inc.
引用
收藏
页码:666 / 668
页数:3
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