Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.
Check melatonin-pathway genes when autism and sleep onset delay co-occur — the answer may be in the DNA.
01Research in Context
What this study did
The team looked at DNA from children with autism who also have trouble falling asleep.
They checked two genes that help the body make and use melatonin: ASMT and CYP1A2.
The goal was to see if tiny changes in these genes show up more often in kids with both autism and sleep onset delay.
What they found
Children with autism plus sleep onset delay carried more variants in ASMT and CYP1A2.
These variants may lower natural melatonin levels and make bedtime harder.
How this fits with other research
Pfeiffer et al. (1995) first noticed flat melatonin rhythms in autistic young adults. Lemons et al. (2015) now add a genetic reason for those low levels.
Mutluer et al. (2016) show that sleep latency is longer in Turkish kids with autism. The new gene data help explain why the delay happens.
Pu et al. (2013) link a different gene, MTHFR, to autism risk. J et al. shift the spotlight from folate to melatonin genes for the sleep part of the picture.
Why it matters
If a child with autism lies awake for hours, consider asking the doctor for a simple gene panel of ASMT and CYP1A2. Positive findings give you a clear, biology-based reason for parents and may open the door to low-dose melatonin trials sooner.
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02At a glance
03Original 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.
Journal of autism and developmental disorders, 2015 · doi:10.1007/s10803-014-2197-4