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人类儿茶酚胺的生化遗传学

Biochemical genetics of catecholamines in humans.

作者信息

Weinshilboum R M

出版信息

Mayo Clin Proc. 1983 May;58(5):319-30.

PMID:6843183
Abstract

Studies of the effects of inheritance on human catecholamine biosynthetic and metabolic enzymes are reviewed. Genetic polymorphisms have been shown to control the level of the biosynthetic enzyme dopamine beta-hydroxylase in serum and the level of the metabolic enzyme catechol-O-methyltransferase in a variety of tissues. Platelet monoamine oxidase, another catecholamine metabolic enzyme, is also under genetic control. These observations help to explain individual differences in response to treatment with catechol drugs and may explain some variations in the function of human catecholamine neurotransmitters. The biochemical genetic approach used to study the enzymes of catecholamine biosynthesis and metabolism could be used to investigate other aspects of adrenergic function and could serve as a model for studies of the effects of inheritance on other human neurotransmitter systems.

摘要

本文综述了关于遗传对人类儿茶酚胺生物合成及代谢酶影响的研究。遗传多态性已被证明可控制血清中生物合成酶多巴胺β-羟化酶的水平以及多种组织中代谢酶儿茶酚-O-甲基转移酶的水平。血小板单胺氧化酶,另一种儿茶酚胺代谢酶,也受遗传控制。这些观察结果有助于解释个体对儿茶酚类药物治疗反应的差异,并可能解释人类儿茶酚胺神经递质功能的一些变化。用于研究儿茶酚胺生物合成和代谢酶的生化遗传学方法可用于研究肾上腺素能功能的其他方面,并可作为研究遗传对其他人类神经递质系统影响的模型。

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