title: Polymorphisms and low plasma activity of dopamine-beta-hydroxylase in ADHD children.
abstract: Attention-deficit Hyperactivity disorder (ADHD) is a multifactorial disorder clinically characterized by inattentiveness, impulsivity and hyperactivity. The occurrence of this disorder is between 3 and 6% of the children population, with boys predominating over girls at a ratio of 3:1 or more. The research of some candidate genes (DRD4, DAT, DRD5, DBH, 5HTT, HTR1B and SNAP25) brought consistent results confirming the heredity of ADHD syndromes. Dopamine-beta-hydroxylase (DBH) is an enzyme responsible for the conversion of dopamine into noradrenaline. Alteration of the dopamine/noradrenaline levels can result in hyperactivity. The DBH protein is released in response to stimulation. DBH activity, derived largely from sympathetic nerves, can be measured in human plasma. Patients with ADHD showed decreased activities of DBH in serum and urine. Low DBH levels correlate indirectly with the seriousness of the hyperkinetic syndrome in children [19,20]. In the DBH gene, the G444A, G910T, C1603T, C1912T, C-1021T, 5 -ins/del and TaqI polymorphisms occur frequently and may affect the function of gene products or modify gene expression and thus influence the progression of ADHD. This article reviews the DBH itself and polymorphisms in the DBH gene that influence the DBH activity in the serum and the CSF level of DBH. All those are evaluated in connection with ADHD.
authors.affiliation: Institute of Biology and Medical Genetics, 2nd School of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic. marta.kopeckova@seznam.cz
authors.forename: Marta
authors.initials: M
authors.lastname: Kopecková
authors.forename: Ivo
authors.initials: I
authors.lastname: Paclt
authors.forename: Petr
authors.initials: P
authors.lastname: Goetz
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000097:blood / Q000134:cerebrospinal fluid / Q000201:enzymology* / Q000235:genetics*; D002648:Child; D004299:Dopamine beta-Hydroxylase / Q000097:blood* / Q000134:cerebrospinal fluid / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D004299:Dopamine beta-Hydroxylase