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Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.

Journal article
Authors Pauline Chaste
Nathalie Clement
Hany Goubran Botros
Jean-Luc Guillaume
Marina Konyukh
Cécile Pagan
Isabelle Scheid
Gudrun Nygren
Henrik Anckarsäter
Maria Råstam
Ola Ståhlberg
I Carina Gillberg
Jonas Melke
Richard Delorme
Claire Leblond
Roberto Toro
Guillaume Huguet
Fabien Fauchereau
Christelle Durand
Lydia Boudarene
Emilie Serrano
Nathalie Lemière
Jean Marie Launay
Marion Leboyer
Ralf Jockers
Christopher Gillberg
Thomas Bourgeron
Published in Journal of Pineal Research
Volume 51
Issue 4
Pages 394-399
ISSN 0742-3098
Publication year 2011
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 394-399
Language en
Keywords Acetylserotonin O-Methyltransferase, Genetics, Arylalkylamine N-Acetyltransferase, Genetics, Attention Deficit Disorder with Hyperactivity, Genetics, Female, Genetic Variation, Genetics, Humans, Male, Melatonin, Genetics, Nerve Tissue, Proteins, Genetics, Receptor, Melatonin, MT1, Genetics Receptors, G-Protein-Coupled, Genetics
Subject categories Child and adolescent psychiatry


Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Here, we sequenced all the genes of the melatonin pathway -AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) and 220 controls from the general population. We could find several damaging mutations in patients with ADHD, but no significant enrichment compared with the general population. Among these variations, we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A. These genetic and functional results represent the first comprehensive ascertainment of melatonin signaling deficiency in ADHD.

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