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


ABSTRACT: 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.

SUBMITTER: Veatch OJ 

PROVIDER: S-EPMC4289108 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

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

Veatch Olivia J OJ   Pendergast Julie S JS   Allen Melissa J MJ   Leu Roberta M RM   Johnson Carl Hirschie CH   Elsea Sarah H SH   Malow Beth A BA  

Journal of autism and developmental disorders 20150101 1


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 cytochr  ...[more]

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