A radioimmunoassay of human circulatory dopamine-β-hydroxylase

Ebstein, Richard P.; Park, Dong H.; Freedman, Lewis S.; Levitz, Stuart M.; Ohuchi, Takeshi; Goldstein, Menek

doi:10.1016/0024-3205(73)90067-2

Cited by 43 publications

(17 citation statements)

References 6 publications

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“…2). This finding confirms the results of previous immunoprecipitation and radioimmunoassay studies (13)(14)(15)(16). It is significant that the shape ofthe frequency distribution histogram for IDBH values (Fig.…”

Section: Methodssupporting

confidence: 91%

“…A positive correlation between immunoreactive and enzymatic plasma DBH levels in blood from randomly selected subjects was found with this immunoprecipitation technique (13) and with radioimmunoassay studies by other investigators (14)(15)(16). However, it is not possible to use immunoprecipitation to directly quantitate DBH protein levels in subjects with very low enzyme activity, and no studies of subjects with known genotype for the allele for very low plasma DBH activity have been carried out by radioimmunoassay.…”

Section: Introductionmentioning

confidence: 83%

“…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.…”

mentioning

confidence: 89%

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Inheritance of Low Immunoreactive Human Plasma Dopamine-β-Hydroxylase

Dunnette¹,

Weinshilboum²

1977

J. Clin. Invest.

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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.

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Section: Methodssupporting

confidence: 91%

Section: Introductionmentioning

confidence: 83%

mentioning

confidence: 89%

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Inheritance of Low Immunoreactive Human Plasma Dopamine-β-Hydroxylase

Dunnette¹,

Weinshilboum²

1977

J. Clin. Invest.

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“…1,5 Most of the variance in pDbH is explained by variation in plasma levels of DbH protein, as shown by strong correlations (rX0.80) between pDbH and plasma levels of DbH immunoreactive protein. 3,4,6 pDbH is a highly heritable trait. Abundant evidence indicates that the structural gene encoding the protein, DBH, regulates much of the genetic variation in the trait (reviewed by Cubells and Zabetian 16 ).…”

Section: Introductionmentioning

confidence: 99%

Genotypic and haplotypic associations of the DBH gene with plasma dopamine β-hydroxylase activity in African Americans

et al. 2007

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Several variants at DBH are significantly associated with plasma DbH activity (pDbH). However, the overwhelming majority of data on this genotype -phenotype relationship has been gathered in samples from Europeans and European Americans (EAs). In this study, we examined the relationship between DBH polymorphisms and pDbH in samples from African-American (AA) subjects. Genotypes were determined at a 19-bp insertion/deletion polymorphism (ins/del) and four single-nucleotide polymorphisms (SNPs) at DBH in 109 samples. Analyses were performed using analyses of variance (ANOVAs) (for individual SNPs) and regression procedures (to assess the joint effects and the specific SNP-based haplotypes). We found:(1) single-variant analysis of all polymorphisms revealed apparent associations to pDbH, with rs1611115 accounting for the largest proportion of the variance in pDbH (28.7%) and ins/del the smallest (6.5%); (2) modest but significant linkage disequilibrium (LD) existed between ins/del and rs1611115; (3) LD between all other pairs of variants was not observed; (3) stepwise regression showed that a model containing rs1611115, rs2519152 and rs6271 accounted for 37.6% of the variance in pDbH, with rs6271 showing additional 7.6% above the effect of rs1611115, and rs2519152 showing additional 2% above rs1611115 and rs6271; (4) two common haplotypes, C-T-C and T-C-C at rs1611115-rs2519152-rs6271 were significantly associated with pDbH (P ¼ 0.0025 and 0.0036, respectively). The data support the validity of prior reported associations and underscore the importance of analyzing multiple SNPs across DBH in future association studies examining disease and biochemical phenotypes.

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“…No correlation was found. On the other hand, Ebstein et al (8), using a radioimmunoassay developed for the enzyme isolated from a human pheochromocytoma, found significant correlation between the enzymatic and immunoassays of individual human sera in one study (8) but not in another one (9).…”

mentioning

confidence: 99%

Measurement of human dopamine-beta-hydroxylase in serum by homologous radioimmunoassay.

Rush¹,

Thomas²,

Udenfriend³

1975

Proc. Natl. Acad. Sci. U.S.A.

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Human serum dopamine-I3-hydroxylase[3,4-dihydroxyphenylethylamine, ascorbate:oxygen oxidoreductase (B8-hydroxylating), EC 1.14.17.11 levels have been determined in 52 samples with a newly devised radioimmunoassay that utilizes purified human enzyme and its specific antiserum. The values obtained were in excellent agreement (correlation coefficient r = 0.98) with those obtained by measuring enzymatic activity in the same sera. Either assay technique, enzymatic or homologous radioimmunoassay, can be used for measurement of the enzyme in normal human serum.The evaluation of the usefulness of serum levels of dopamine-,3-hydroxylase [3,4-dihydroxyphenylethylamine, ascorbate: oxygen oxidoreductase (/3-hydroxylating), EC 1.14.17.1, DO3H] as an index of sympathetic nervous system activity in man has been hindered by the extremely wide range of values seen in "normal" human serum samples (1-4). This wide range of values appears to be genetically controlled (5, 6) and may mask any variations due to differences in sympathetic activity. Recently, using a radioimmunoassay developed for bovine DjOH, we measured human serum and compared these values with those obtained by enzyme assay (7). No correlation was found. On the other hand, Ebstein et al. (8), using a radioimmunoassay developed for the enzyme isolated from a human pheochromocytoma, found significant correlation between the enzymatic and immunoassays of individual human sera in one study (8) but not in another one (9). In order to help clarify the relationship between the two types of assay we have estimated individual serum samples by both an enzymatic and a homologous radioimmunoassayt for human D03H. The immunoassay was developed using purified human DOH isolated from adrenal glands obtained at autopsy, and its specific antibody.Abbreviation: D,3H, dopamine-,8-hydroxylase.

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A radioimmunoassay of human circulatory dopamine-β-hydroxylase

Cited by 43 publications

References 6 publications

Inheritance of Low Immunoreactive Human Plasma Dopamine-β-Hydroxylase

Inheritance of Low Immunoreactive Human Plasma Dopamine-β-Hydroxylase

Genotypic and haplotypic associations of the DBH gene with plasma dopamine β-hydroxylase activity in African Americans

Measurement of human dopamine-beta-hydroxylase in serum by homologous radioimmunoassay.

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