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Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.

Veatch OJ, Pendergast JS, Allen MJ, Leu RM, Johnson CH, Elsea SH, Malow BA
J Autism Dev Disord. 2015 45 (1): 100-10

PMID: 25059483 · PMCID: PMC4289108 · DOI:10.1007/s10803-014-2197-4

Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ≤ 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r(2) = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes.

MeSH Terms (15)

Acetylserotonin O-Methyltransferase Child Child, Preschool Child Development Disorders, Pervasive Clinical Trials as Topic Cytochrome P-450 CYP1A2 DNA Mutational Analysis Endophenotypes Genotype Humans Male Melatonin Mutation Polymorphism, Single Nucleotide Sleep Initiation and Maintenance Disorders

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