Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children

Schain, Richard J.; Freedman, Daniel X.

doi:10.1016/s0022-3476(61)80261-8

Cited by 522 publications

(255 citation statements)

References 17 publications

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“…Blood concentrations of serotonin (5-HT) are increased in a subgroup of autistic children (Schain and Freedman 1996;Cook and Leventhal 1996). McBride et al (1998) found that the autistic group showed a modest (15%) elevation in whole blood 5-HT which might have proved statistically significant in a larger study group.…”

Section: Serotonin (5-ht)mentioning

confidence: 99%

Peripheral Markers of Serotonergic and Noradrenergic Function in Post-Pubertal, Caucasian Males with Autistic Disorder

Croonenberghs

Delmeire²,

Verkerk³

et al. 2000

Neuropsychopharmacology

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Some studies have suggested that disorders in the peripheral and central metabolism of serotonin (5-HT) and noradrenaline may play a role in the pathophysiology of autistic disorder. This study examines serotonergic and noradrenergic markers in a study(5-15 per 10.000) and is four times more common in boys than in girls. Research on the biological pathophysiology of autism has found some evidence for a role of the turnover of serotonin (5-HT) and catecholamines.

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Section: Serotonin (5-ht)mentioning

confidence: 99%

Peripheral Markers of Serotonergic and Noradrenergic Function in Post-Pubertal, Caucasian Males with Autistic Disorder

Croonenberghs

Delmeire²,

Verkerk³

et al. 2000

Neuropsychopharmacology

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“…One clue into the pathophysiology of autism is elevated whole blood serotonin (5-hydroxytryptamine, 5-HT), present in approximately one-third of patients (Schain and Freedman, 1961;Cook and Leventhal, 1996). Hyperserotonemia has been found to be familial and to be associated with recurrence risk of autism within families (Abramson et al, 1989;Cook et al, 1990;Piven et al, 1991).…”

Section: Introductionmentioning

confidence: 99%

Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism

Cross

Kim

Weiss

et al. 2007

Neuropsychopharmacol

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Elevated platelet serotonin (5-hydroxytryptamine, 5-HT) is found in a subset of children with autism and in some of their first-degree relatives. Indices of the platelet serotonin system, including whole blood 5-HT, 5-HT binding affinity for the serotonin transporter (K m ), 5-HT uptake (V max ), and lysergic acid diethylamide (LSD) receptor binding, were previously studied in 24 first-degree relatives of probands with autism, half of whom were selected for elevated whole blood 5-HT levels. All subjects were then genotyped for selected polymorphisms at the SLC6A4, HTR7, HTR2A, ITGB3, and TPH1 loci. Previous studies allowed an a priori prediction of SLC6A4 haplotypes that separated the subjects into three groups that showed significantly different 5-HT binding affinity (K m , p ¼ 0.005) and 5-HT uptake rate (V max , p ¼ 0.046). Genotypes at four individual polymorphisms in SLC6A4 were not associated with platelet 5-HT indices. Haplotypes at SLC6A4 and individual genotypes of polymorphisms at SLC6A4, HTR7, HTR2A, ITGB3, and TPH1 showed no significant association with whole blood 5-HT. Haplotype analysis of two polymorphisms in TPH1 revealed a nominally significant association with whole blood 5-HT (p ¼ 0.046). These initial studies of indices of the 5-HT system with several single-nucleotide polymorphisms at loci in this system generate hypotheses for testing in other samples.

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“…4 One of the oldest and most replicated findings is hyperserotonemia, or elevated platelet serotonin levels, in about 30% of individuals with autism. 5,6 Moreover, subjects with autism who have an affected sibling show higher levels of platelet serotonin compared with subjects without an affected sibling. 7 Several studies have revealed positive correlation of serotonin levels between affected individuals and their first-degree (unaffected) relatives (0.50oro0.71), further suggesting the heritability of this trait.…”

Section: Introductionmentioning

confidence: 99%

Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility

et al. 2006

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Autism is a pervasive developmental disorder affecting more males than females. Heritability estimates for autism can rise above 90%, and genes influencing the serotonin system are strong candidates for autism susceptibility genes, as drugs selectively acting on the serotonin system are some of the most effective treatments for maladaptive behaviors seen in autism. ITGB3 was recently identified as a male quantitative trait locus (QTL) for whole-blood serotonin levels in the Hutterites (P ¼ 0.0003). Here, we demonstrate associations between variation in ITGB3 and serotonin levels in two outbred samples (P ¼ 0.010 and 0.015). Lastly, we show that a coding variant of ITGB3 is associated with autism susceptibility in a large multiplex sample (P ¼ 0.00082), and that this variation has different effects in males and females (P ¼ 0.0018).

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Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children

Cited by 522 publications

References 17 publications

Peripheral Markers of Serotonergic and Noradrenergic Function in Post-Pubertal, Caucasian Males with Autistic Disorder

Peripheral Markers of Serotonergic and Noradrenergic Function in Post-Pubertal, Caucasian Males with Autistic Disorder

Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism

Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility

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