Inheritance of Low Immunoreactive Human Plasma Dopamine-β-Hydroxylase

Abstract

A B S T R A C T (IDBH) in blood from a randomly selected population of adolescents was 824±38 ng/ml (mean±SEM, n = 134). The correlation coefficient of enzymatic DBH with IDBH for this group of 134 adolescents was 0.84 (P < 0.001). Ofthese subjects, 3.7% had values of <100 ng/ml and appeared to compose a separate subgroup analogous to the 3-4% of the population that is homozygous for the allele for low enzymatic activity. There was a significant siblingsibling correlation of IDBH values in the 14 sibling pairs included among the 134 subjects studied (r = 0.60, P < 0.025). IDBH was also measured in blood from 56 subjects homozygous (dd) for the allele for low enzymatic DBH (enzymatic activity < 50 U/ml) and in blood of 80 first-degree relatives of homozygous probands. All but two dd subjects had IDBH levels of <100 ng/ml. Results of family studies were compatible with the autosomal recessive inheritance of an allele for IDBH levels of less than 100 ng/ml which segregates with the allele for very low enzymatic activity. Average IDBH in blood of 37 obligate heterozygotes as determined by family studies (Dd) was 599±53 ng/ml (mean +4SEM), significantly lower than the IDBH values found in a randomly selected population (P < 0.005). These results are compatible with the conclusion that Dr.

Inheritance of human plasma dopamine‐β‐hydroxylase thermal stability

“…Early studies conceptualizing plasma DBH activity as a qualitative trait suggested that a major gene polymorphism accounted for a large proportion of the variance in activity of this enzyme in the normal human population [Weinshilboum et al, 1975;Dunnette and Weinshilboum, 1977;Weinshilboum, 19791. Other investigators, using complex segregation analysis and linkage analysis to analyze DBH activity as a quantitative trait, found evidence that a major gene contributed to the regulation of the activity of this enzyme in the blood [Elston et al, 1979;Goldin et al, 1982;Asamoah et al, 1987;Wilson et al, 19881 and that a polygenic component was also involved in the genetic transmission of DBH activity [Goldin, 19851.…”

Clinical Utility of Monoamine Neurotransmitter Metabolite Analysis in Cerebrospinal Fluid

“…In patients with dopamine ␤-hydroxylase deficiency, activity of this enzyme is absent in plasma; however, there is genetically determined interindividual variation in plasma dopamine ␤-hydroxylase, with 3% to 4% of the normal adult population having near-zero concentrations (38 ). The disorder can be confirmed by the evaluation of the norepinephrine-to-dopamine ratio in plasma.…”

Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese

“…5 Serum DBH activity of human as well as gorilla have been known to be polymorphic for the last 30 years. [6][7][8][9] This inter-individual difference in serum DBH of European population has been stated as being mostly related to a promoter polymorphism at the À1021 promoter region (C to T, rs1611115). 10 Furthermore, there are probably a few pathogenetic germline mutations of DBH that explain rare congenital deficiency.…”