Investigation of DNA methylation at the promoter region of the aralkylamine N-acetyltransferase (AANAT ) gene in South African children with Autism Spectrum Disorder
Abstract
Sleep problems and suppressed melatonin production commonly presents with core Autism Spectrum Disorder (ASD) traits. Aralkylamine N-acetyltransferase (AANAT) acts as the penultimate and rate-limiting enzyme in the melatonin biosynthetic pathway, and a study by Hu et al. (2009) reported that AANAT expression was suppressed in an ASD population with severe language impairments. The mechanism responsible for this suppressed expression is unknown. Therefore, the aim of the study was to investigate the genetic and epigenetic features of AANAT in a cohort of South African children with ASD versus children with typical development in combination with a melatonin production study to explore melatonin's contribution to ASD symptomatology. It was expected that meeting this aim would reveal DNA methylation (DNAme) modifications were statistically significant different between case and control participants. Alternatively, that DNAme features would correlate with distinct ASD traits or sleep problems and/or altered melatonin production in case participants. Biological samples and phenotypic data were collected from boys, aged between 6 and 14 years old who were assessed with the Autism Diagnostic Observation Schedule (ADOS-2). The promoter region and gene body of AANAT was sequenced (case n=26, control n=26) and DNAme analysis was performed with the Epityper massARRAY system (case n=19, control n=20). Urinary 6-hydroxymelatonin sulphate (6-OHMS) was quantified with an enzyme-linked…
How strong is the evidence?
Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence. Reported size: 26 participants or records.
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