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Genetic variations ...
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
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Chaste, Pauline (author)
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Clement, Nathalie (author)
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Botros, Hany Goubran (author)
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Guillaume, Jean-Luc (author)
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Konyukh, Marina (author)
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Pagan, Cécile (author)
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Scheid, Isabelle (author)
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- Nygren, Gudrun, 1957 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Anckarsäter, Henrik, 1966 (author)
- Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Rättspsykiatri, Malmö,Forskargrupper vid Lunds universitet,Forensic Psychiatry, Malmö,Lund University Research Groups
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- Råstam, Maria, 1948 (author)
- Lund University,Lunds universitet,Barn- och ungdomspsykiatri,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Child and Adolescent Psychiatry,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Ståhlberg, Ola (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Gillberg, I Carina, 1949 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Melke, Jonas, 1971 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology
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Delorme, Richard (author)
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Leblond, Claire (author)
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Toro, Roberto (author)
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Huguet, Guillaume (author)
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Fauchereau, Fabien (author)
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Durand, Christelle (author)
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Boudarene, Lydia (author)
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Serrano, Emilie (author)
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Lemière, Nathalie (author)
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Launay, Jean Marie (author)
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Leboyer, Marion (author)
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Jockers, Ralf (author)
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- Gillberg, Christopher, 1950 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Bourgeron, Thomas (author)
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(creator_code:org_t)
- 2011
- 2011
- English.
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In: Journal of Pineal Research. - 0742-3098 .- 1600-079X. ; 51:4, s. 394-399
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http://www.ncbi.nlm....
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http://onlinelibrary...
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http://dx.doi.org/10...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Keyword
- 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
- Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of 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.
Publication and Content Type
- ref (subject category)
- art (subject category)
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Chaste, Pauline
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Clement, Nathali ...
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Botros, Hany Gou ...
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Guillaume, Jean- ...
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Konyukh, Marina
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Pagan, Cécile
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show more...
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Scheid, Isabelle
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Nygren, Gudrun, ...
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Anckarsäter, Hen ...
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Råstam, Maria, 1 ...
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Ståhlberg, Ola
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Gillberg, I Cari ...
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Melke, Jonas, 19 ...
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Delorme, Richard
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Leblond, Claire
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Toro, Roberto
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Huguet, Guillaum ...
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Fauchereau, Fabi ...
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Durand, Christel ...
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Boudarene, Lydia
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Serrano, Emilie
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Lemière, Nathali ...
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Launay, Jean Mar ...
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Leboyer, Marion
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Jockers, Ralf
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Gillberg, Christ ...
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Bourgeron, Thoma ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
- Articles in the publication
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Journal of Pinea ...
- By the university
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University of Gothenburg
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Lund University