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Abnormal melatonin synthesis in autism spectrum disorders.

Journal article
Authors Jonas Melke
Hany Goubran-Botros
Pauline Chaste
Catalina Betancur
Gudrun Nygren
Henrik Anckarsäter
Maria Råstam
Ola Ståhlberg
I Carina Gillberg
Richard Delorme
Nadia Chabane
Marie-Christine Mouren-Simeoni
Fabien Fauchereau
Christelle. M. Durand
Fabien Chevalier
Xavier Drouot
Corinne Collet
Jean-Marie Launay
Marion Leboyer
Christopher Gillberg
Thomas Bourgeron
Published in Molecular Psychiatry
Volume 13
Issue 1
Pages 90-98
ISSN 1359-4184
Publication year 2008
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 90-98
Language en
Keywords Acetylserotonin O-Methyltransferase, Genetics, Metabolism, Adolescent, Adult, Autistic Disorder, Enzymology, Genetics, Case-Control Studies, Child, Female, Humans, Male, Matched-Pair Analysis, Melatonin, Biosynthesis, Metabolism, Middle Aged, Pedigree, Polymorphism, Genetic, Promoter Regions, Genetic, Genetics, Reference Values
Subject categories Psychiatry


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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