Genetic deficiencies of monoamine oxidase enzymes: a key to understanding the function of the enzymes in humans.

摘要: Publisher Summary Monoamine oxidase (MAO) plays a pivotal role in the noxidative deamination of catecholamines, serotonin, and trace amines, phenylethylamine tyramine. Pharmacological inhibition MAO animals humans has profound neurophysiological effects by modulating neurotransmitter function. Consequently, it been assumed that genetically determined variations activity might be associated with behavioral mood disorders. Although different substrate inhibitor specificities two isoenzymes, MAO-A MAO-B, are well documented, their relative roles for metabolism catecholamines vivo less established. The can examined several ways. First, is possible to block pharmacologically specific inhibitors. A second approach examine metabolic fate radiolabeled metabolites. Third metabolites subjects who have absence one or both isoenzymes. Knowledge patterns deficiency (iso-) enzyme offer diagnostic possibilities detection patients genetic disorders biogenic amine psychiatric disturbances. Studies rats also shown resulted larger elevations plasma normetanephrine (NMN) than metanephrine (MN). contribution adrenal glands concentration NMN much (MN) (40% versus. 90%), indicating does not play an important degradation within MAO-B combined MAO-B. This chapter on comparison selective deficiencies MAO-AB provides insight into isoenzymes humans.