Biomaterial Database

Thermal stability and the biochemical genetics of erythrocyte catechol-O-methyl-transferase and plasma dopamine-beta-hydroxylase. 1981

R Weinshilboum, and J Dunnette

The levels of activity of human erythrocyte (RBC) catechol-O-methyl-transferase (COMT) and human plasma dopamine-beta-hydroxylase (DBH) are inherited in a monogenic fashion. The COMT in erythrocytes of subjects homozygous for the allele for low basal enzyme activity, COMTL, is more thermolabile than that in the erythrocytes of subjects with genetically high basal enzyme activity. This observation suggests that the locus COMT may represent the structural gene for COMT in man. Wide individual variations in the thermal stability of human plasma DBH also occur. There is a significant familial aggregation of the trait of thermolabile plasma DBH. Although subjects with thermolabile plasma DBH have average basal plasma DBH activity only about 55% of that of subjects with thermostable enzyme, the trait of thermolability does not cosegregate with DBHL, the allele for very low basal plasma DBH activity. Studies of thermal stability may help to increase our understanding of the biochemical basis of the genetic regulation of catecholamine enzymes in man.

UI	MeSH Term	Description	Entries
D008967	Molecular Biology	A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.	Biochemical Genetics,Biology, Molecular,Genetics, Biochemical,Genetics, Molecular,Molecular Genetics,Biochemical Genetic,Genetic, Biochemical,Genetic, Molecular,Molecular Genetic
D009422	Nervous System Diseases	Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.	Neurologic Disorders,Nervous System Disorders,Neurological Disorders,Disease, Nervous System,Diseases, Nervous System,Disorder, Nervous System,Disorder, Neurologic,Disorder, Neurological,Disorders, Nervous System,Disorders, Neurologic,Disorders, Neurological,Nervous System Disease,Nervous System Disorder,Neurologic Disorder,Neurological Disorder
D002394	Catechol O-Methyltransferase	Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.	Catechol Methyltransferase,Catechol-O-Methyltransferase,Catechol O Methyltransferase,Methyltransferase, Catechol,O-Methyltransferase, Catechol
D004299	Dopamine beta-Hydroxylase		Dopamine beta-Monooxygenase,Dopamine beta Hydroxylase,Dopamine beta Monooxygenase,beta-Hydroxylase, Dopamine,beta-Monooxygenase, Dopamine
D004912	Erythrocytes	Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.	Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001523	Mental Disorders	Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.	Mental Illness,Psychiatric Diseases,Psychiatric Disorders,Psychiatric Illness,Behavior Disorders,Diagnosis, Psychiatric,Mental Disorders, Severe,Psychiatric Diagnosis,Illness, Mental,Mental Disorder,Mental Disorder, Severe,Mental Illnesses,Psychiatric Disease,Psychiatric Disorder,Psychiatric Illnesses,Severe Mental Disorder,Severe Mental Disorders
D013816	Thermodynamics	A rigorously mathematical analysis of energy relationships (heat, work, temperature, and equilibrium). It describes systems whose states are determined by thermal parameters, such as temperature, in addition to mechanical and electromagnetic parameters. (From Hawley's Condensed Chemical Dictionary, 12th ed)	Thermodynamic