Abstract
There are large individual variations in the thermal stability of human plasma dopamine-beta-hydroxylase (DBH). These variations are a characteristic of the DBH molecule itself. Individual subjects may be classified as those with thermolabile and those with thermostable plasma DBH. Of 362 randomly selected unrelated children, 8.01%, and of 238 randomly selected unrelated adult subjects, 5.46% had thermolabile plasma DBH. There was not a significant correlation of DBH thermolability with either sex or age on the basis of data from 230 adults and children in 53 randomly selected families. Subjects with thermolabile DBH had basal enzyme activity only about 55% of that in subjects with stable enzyme. There was not a direct relationship between DBH thermolability and the allele DBHL, the presence of which results in very low basal enzyme activity. There was a significant familial aggregation of the trait of DBH thermolability, but there was not a significant correlation of this trait among spouses. Although preliminary pedigree evaluation raised the possibility of monogenic inheritance of the trait of DBH thermolability by an autosomal recessive mechanism, three separate families in which both parents had thermolabile enzyme included offspring with thermostable DBH. All five of these offspring had very low basal plasma DBH and were presumed to be homozygous for the allele DBHL. These observations raised the possibility that the trait of plasma DBH thermolability may be inherited, and that there may be an interaction between the locus or loci responsible for thermal stability and the locus DBH.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bök J. A., Wetterberg L., Modrzewska K. Schizophrenia in a North Swedish geographical isolate, 1900--1977. Epidemiology, genetics and biochemistry. Clin Genet. 1978 Dec;14(6):373–394. doi: 10.1111/j.1399-0004.1978.tb02105.x. [DOI] [PubMed] [Google Scholar]
- Dunnette J., Weinshilboum R. Human plasma dopamine-beta-hydroxylase: oxygen and thermal stability. Experientia. 1981 Feb 15;37(2):115–117. doi: 10.1007/BF01963178. [DOI] [PubMed] [Google Scholar]
- Dunnette J., Weinshilboum R. Human plasma dopamine-beta-hydroxylase: variation in thermal stability. Mol Pharmacol. 1979 May;15(3):649–660. [PubMed] [Google Scholar]
- Dunnette J., Weinshilboum R. Human serum dopamine beta-hydroxylase: correlation of enzymatic activity with immunoreactive protein in genetically defined samples. Am J Hum Genet. 1976 Mar;28(2):155–166. [PMC free article] [PubMed] [Google Scholar]
- Dunnette J., Weinshilboum R. Inheritance of low immunoreactive human plasma dopamine-beta-hydroxylase. Radioimmunoassay studies. J Clin Invest. 1977 Nov;60(5):1080–1087. doi: 10.1172/JCI108859. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Elston R. C., Namboodiri K. K., Hames C. G. Segregation and linkage analyses of dopamine-beta-hydroxylase activity. Hum Hered. 1979;29(5):284–292. doi: 10.1159/000153059. [DOI] [PubMed] [Google Scholar]
- Elston R. C., Stewart J. A general model for the genetic analysis of pedigree data. Hum Hered. 1971;21(6):523–542. doi: 10.1159/000152448. [DOI] [PubMed] [Google Scholar]
- Geffen L. B., Livett B. G., Rush R. A. Immunological localization of chromogranins in sheep sympathetic neurones, and their release by nerve impulses. J Physiol. 1969 Oct;204(2):58P–59P. [PubMed] [Google Scholar]
- KAUFMAN S., FRIEDMAN S. DOPAMINE-BETA-HYDROXYLASE. Pharmacol Rev. 1965 Jun;17:71–100. [PubMed] [Google Scholar]
- Molinoff P. B., Weinshilboum R., Axelrod J. A sensitive enzymatic assay for dopamine- -hydroxylase. J Pharmacol Exp Ther. 1971 Sep;178(3):425–431. [PubMed] [Google Scholar]
- Oka M., Kajikawa K., Ohuchi T., Yoshida H., Imaizumi R. Distribution of dopamine-beta-hydroxylase in subcellular fractions of adrenal medulla. Life Sci. 1967 Mar 1;6(5):461–465. doi: 10.1016/0024-3205(67)90048-3. [DOI] [PubMed] [Google Scholar]
- Scanlon P. D., Raymond F. A., Weinshilboum R. M. Catechol-O-methyltransferase: thermolabile enzyme in erythrocytes of subjects homozygous for allele for low activity. Science. 1979 Jan 5;203(4375):63–65. doi: 10.1126/science.758679. [DOI] [PubMed] [Google Scholar]
- Stjärne L., Lishajko F. Localization of different steps in noradrenaline synthesis to different fractions of a bovine splenic nerve homogenate. Biochem Pharmacol. 1967 Sep 9;16(9):1719–1728. doi: 10.1016/0006-2952(67)90247-x. [DOI] [PubMed] [Google Scholar]
- Weinshilboum R. M., Dunnette J., Raymond F., Kleinberg F. Erythrocyte catechol-0-methyltransferase and plasma dopamine-beta-hydroxylase in human umbilical cord blood. Experientia. 1978 Mar 15;34(3):310–311. doi: 10.1007/BF01923004. [DOI] [PubMed] [Google Scholar]
- Weinshilboum R. M., Schorott H. G., Raymond F. A., Weidman W. H., Elveback L. R. Inheritance of very low serum dopamine-beta-hydroxylase activity. Am J Hum Genet. 1975 Sep;27(5):573–585. [PMC free article] [PubMed] [Google Scholar]
- Weinshilboum R. M. Serum dopamine beta-hydroxylase. Pharmacol Rev. 1978 Jun;30(2):133–166. [PubMed] [Google Scholar]
- Weinshilboum R. M., Sladek S. L. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet. 1980 Sep;32(5):651–662. [PMC free article] [PubMed] [Google Scholar]
- Weinshilboum R. M., Thoa N. B., Johnson D. G., Kopin I. J., Axelrod J. Proportional release of norepinephrine and dopamine- -hydroxylase from sympathetic nerves. Science. 1971 Dec 24;174(4016):1349–1351. doi: 10.1126/science.174.4016.1349. [DOI] [PubMed] [Google Scholar]
- Weinshilboum R., Axelrod J. Serum dopamine-beta-hydroxylase activity. Circ Res. 1971 Mar;28(3):307–315. doi: 10.1161/01.res.28.3.307. [DOI] [PubMed] [Google Scholar]
- de Potter W. P., de Schaepdryver A. F., Moerman E. J., Smith A. D. Evidence for the release of vesicle-proteins together with noradrenaline upon stimulation of the splenic nerve. J Physiol. 1969 Oct;204(2):102P+–102P+. [PubMed] [Google Scholar]