Polymorphisms of dopamine-beta-hydroxylase in ADHD children.
ADHD is a multifactorial disorder clinically characterized by inattentiveness, impulsivity and hyperactivity. The occurrence of this disorder varies between 3 and 6% of the child population, with boys predominating over girls at a ratio of 3 : 1 or more. Dysfunction or imbalance between the dopaminergic and noradrenergic systems of neurotransmitters can play a key role in the ADHD pathophysiology. Alteration of the dopamine/noradrenaline levels can result in hyperactivity. DBH is an enzyme responsible for the conversion of dopamine into noradrenaline. 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 (Galvin et al., 1995, 1997). 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.
Kopecková
M
M
Institute of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic. marta.kopeckova@seznam.cz
Paclt
I
I
Goetz
P
P
D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics*; D002648:Child; D004299:Dopamine beta-Hydroxylase / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic
D004299:Dopamine beta-Hydroxylase