Abnormal melatonin synthesis in autism spectrum disorders
Open accessAbstract
Melatonin is produced in the dark by the pineal gland and is a key regulator of circadian and seasonal rhythms. A low melatonin level has been reported in individuals with autism spectrum disorders (ASD), but the underlying cause of this deficit was unknown. The ASMT gene, encoding the last enzyme of melatonin synthesis, is located on the pseudo-autosomal region 1 of the sex chromosomes, deleted in several individuals with ASD. In this study, we sequenced all ASMT exons and promoters in individuals with ASD (n=250) and compared the allelic frequencies with controls (n=255). Non-conservative variations of ASMT were identified, including a splicing mutation present in two families with ASD, but not in controls. Two polymorphisms located in the promoter (rs4446909 and rs5989681) were more frequent in ASD compared to controls (P=0.0006) and were associated with a dramatic decrease in ASMT transcripts in blood cell lines (P=2 x 10(-10)). Biochemical analyses performed on blood platelets and/or cultured cells revealed a highly significant decrease in ASMT activity (P=2 x 10(-12)) and melatonin level (P=3 x 10(-11)) in individuals with ASD. These results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for ASD. They also support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.
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The most consistent related finding in prepubertal children, pubertal adolescents and young adults with ASD is reduced melatonin levels in the evening.
“The most consistent related finding in prepubertal children, pubertal adolescents and young adults with ASD is reduced melatonin levels in the evening99–102.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [102]
Variants identified in the promoter of the ASMT gene were specific to individuals with ASD compared with controls and were associated with reduced ASMT activity and melatonin levels.
“Variants identified in the promoter of the ASMT gene were specific to individuals with ASD compared with controls and were associated with reduced ASMT activity and melatonin levels102.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [102]
In patients with ASD, altered function and metabolism of neurotransmitters such as 5-HT and catecholamines, and dysfunction of the serotonergic system, have been reported to contribute to symptomatology.
“In patients with ASD, altered function and metabolism of neurotransmitters, such as 5′-HT and catecholamines, and dysfunction of the serotonergic system have been reported to contribute to symptomatology [188,192,193,194,195,196].”
From Autism, Gastrointestinal Symptoms and Modulation of Gut Microbiota by Nutritional Interventions (2019) · cites this paper as [192]
Low plasma melatonin concentration is a frequent trait in ASD patients, caused by a primary deficit in acetylserotonin-methyl-transferase (ASMT) activity.
“low plasma melatonin concentration is a frequent trait in ASD patients,100,101caused by a primary deficit in acetylserotonin-melhyl-transferase (ASMT) activity.”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [100]
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- Authors
- Melke, J., Goubran Botros, H., Chaste, P., Betancur, C., Nygren, G., Anckarsäter, H., Rastam, M., Ståhlberg, O., Gillberg, I. C., Delorme, R., Chabane, N., Mouren-Simeoni, M.-C., Fauchereau, F., Durand, C. M., Chevalier, F., Drouot, X., Collet, C., Launay, J.-M., Leboyer, M., Gillberg, C., Bourgeron, T., & study, A. T. P.
- Affiliations
- Institut Pasteur (FR)
- Inserm (FR)
- University of Gothenburg (SE)
- Lund University (SE)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Universitaire Henri-Mondor (FR)
- St George's Hospital (GB)
- Corresponding author
- Bourgeron, T
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2007-05-15
- Volume
- 13
- Issue
- 1
- Pages
- 90-98
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC2199264
- OpenAlex
- W1982054620
- Cited by
- 511
- References
- 50
- Citations by year
- 2026: 15 · 2025: 20 · 2024: 31 · 2023: 24 · 2022: 33 · 2021: 27 · 2020: 37 · 2019: 29 · 2018: 32 · 2017: 21 · 2016: 19 · 2015: 30 · 2014: 23 · 2013: 36 · 2012: 29
- FWCI
- 10.08
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Fondation pour la Recherche Médicale
- Fondation de France
- Assistance publique-Hôpitaux de Paris
- Medical Research Council
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, melatonin synthesis, melatonin, splicing mutation, melatonin deficiency, genetic susceptibility, circadian rhythm, platelets
- MeSH terms
- Acetylserotonin O-Methyltransferase, Adolescent, Adult, Autistic Disorder, Child, Female, Humans, Male, Melatonin, Middle Aged, Pedigree, Polymorphism, Genetic, Promoter Regions, Genetic, Reference Values, Case-Control Studies, Matched-Pair Analysis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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