CYP1A2 polymorphisms in slow melatonin metabolisers: a possible relationship with autism spectrum disorder?. (23rd July 2012)

• Record Type: Journal Article
• Authors: Braam, W.; Keijzer, H.; Struijker Boudier, H.; Didden, R.; Smits, M.; Curfs, L.
• Is Part Of: Journal of intellectual disability research. Volume 57:Part 11(2013:Nov.)
• Page Start: 993
• Page End: 1000
• Publication Date: 2012-07-23
• Subjects: Mental retardation -- Research -- Periodicals; 362.2
• DOI: 10.1111/j.1365-2788.2012.01595.x
• Languages: English
• ISSNs: 0964-2633

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p> <bold>Background </bold> In some of our patients with intellectual disabilities (ID) and sleep problems, the initial good response to melatonin disappeared within a few weeks after starting treatment. In these patients melatonin levels at noon were extremely high (&gt;50 pg/ml). We hypothesise that the disappearing effectiveness is associated with slow metabolisation of melatonin because of a single nucleotide polymorphism (SNP) of CYP1A2.</p> <p> <bold>Method </bold> In this pilot study we analysed DNA extracted from saliva samples of 15 consecutive patients with disappearing effectiveness of melatonin. Saliva was collected at noon and 4 <sc>pm</sc> for measuring melatonin levels.</p> <p> <bold>Results </bold> In all patients' salivary melatonin levels at noon were &gt;50 or melatonin half time was &gt;5 h. A SNP was found in eight of 15 patients. The allele *1C was found in two patients and in six patients the *1F allele was found.</p> <p> <bold>Conclusions </bold> Of 15 patients with disappearing effectiveness of melatonin, seven were diagnosed with autism spectrum disorder, and in four of them a SNP was found. The other eight patients were known with a genetic syndrome. In six of them behaviour was considered to be autistic‐type and in three of them a SNP was found. This finding may give a new direction for research into the genetic background of autism.</p> </abstract>