人类芳香烃胺-N-乙酰基转移酶（AA-NAT）基因自然存在的-263G/C变异体与夜间褪黑素分泌

A naturally occurring -263G/C variant of the human AA-NAT gene and overnight melatonin production.

作者信息

Ying Grace Wang, Lee Caroline Guat Lay, Lee Edmund Jon Deoon

机构信息

Department of Pharmacology, Faculty of Medicine, National University of Singapore, 10 Kent Ridge Crescent, Singapore.

出版信息

Mol Genet Metab. 2004 Jan;81(1):65-9. doi: 10.1016/j.ymgme.2003.10.009.

DOI:10.1016/j.ymgme.2003.10.009

PMID:14728993

Abstract

Several lines of evidence show that the daily amount of melatonin produced differs greatly between individuals. Any polymorphism in the gene of arylalkylamine N-acetyltransferase (AA-NAT), a critical enzyme involved in melatonin biosynthesis, may contribute to the variability of melatonin production. The present study investigated the possible association between overnight melatonin excretion and a commonly occurring -263G/C polymorphism in the promoter region of the human AA-NAT gene. However, we found that -263G/C variant had no effect on the overnight 6-OHMS excretion. In this study, individual genotyping for -263G/C was determined by denaturing high performance liquid chromatography (DHPLC) and confirmed by sequencing. The overnight urinary 6-hydroxymelatonin sulfate (6-OHMS) excretion was quantified by enzyme-linked immunosorbent assay (ELISA).

摘要

多项证据表明，个体之间每日褪黑素的分泌量差异很大。芳基烷基胺N-乙酰基转移酶（AA-NAT）是参与褪黑素生物合成的关键酶，其基因中的任何多态性都可能导致褪黑素分泌的变异性。本研究调查了人AA-NAT基因启动子区域常见的-263G/C多态性与夜间褪黑素排泄之间的可能关联。然而，我们发现-263G/C变体对夜间6-羟基褪黑素硫酸盐（6-OHMS）排泄没有影响。在本研究中，通过变性高效液相色谱（DHPLC）确定-263G/C的个体基因分型，并通过测序进行确认。通过酶联免疫吸附测定（ELISA）对夜间尿中硫酸6-羟基褪黑素（6-OHMS）排泄进行定量。