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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : Journal of pineal research

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

Team: Human Genetics and Cognitive Functions
Team: Applied and Theoretical Neuroanatomy
Member: Thomas Bourgeron
Member: Richard Delorme
Member: Claire Leblond
Member: Roberto Toro
Member: Nathalie Lemiere
Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Journal of pineal research - 01 Nov 2011

Chaste P, Clement N, Botros HG, Guillaume JL, Konyukh M, Pagan C, Scheid I, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg IC, Melke J, Delorme R, Leblond C, Toro R, Huguet G, Fauchereau F, Durand C, Boudarene L, Serrano E, Lemière N, Launay JM, Leboyer M, Jockers R, Gillberg C, Bourgeron T,

Link to Pubmed [PMID] – 21615493

Link to DOI – 10.1111/j.1600-079X.2011.00902.x

J Pineal Res 2011 Nov; 51(4): 394-9

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.