A GENETIC-POLYMORPHISM OF THE N-OXIDATION OF TRIMETHYLAMINE IN HUMANS
A GENETIC-POLYMORPHISM OF THE N-OXIDATION OF TRIMETHYLAMINE IN HUMANS
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DOI：
10.1038/clpt.1987.201
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发表时间：
1987-11-01
影响因子：
6.7
通讯作者：
SMITH, RL
中科院分区：
文献类型：
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作者：
ALWAIZ, M;AYESH, R;SMITH, RL
三甲胺（TMA）及其n -氧化物（TMAO）是人体尿液的正常成分。它们存在于饮食中，也来源于肠细菌代谢的前体，如胆碱。饮食中的TMA几乎完全被代谢为TMAO并以TMAO的形式排出体外。然而，在英国白人人群研究中，TMA经历n -氧化的程度似乎是多态的（n=169）。两例小鼠被鉴定为TMA n -氧化相对缺乏，并通过口服TMA （600 mg）进一步证实。在正常饮食条件下和口服TMA刺激后，对这两名患者的家族研究，以及对两名三甲胺尿患者的家族研究强烈表明，n氧化受损的情况是作为一种隐性性状遗传的。有人提出，人类TMA的n -氧化是多态的，受单基因双等位基因控制，变异等位基因纯合的个体表现出明显的n -氧化缺乏症和三甲胺尿症。
Trimethylamine (TMA) and its N-oxide (TMAO) are normal components of human urine. They are present in the diet and also derived from the enterobacterial metabolism of precursors such as choline. Dietary TMA is almost entirely metabolized to and excreted as TMAO. However, the extent to which TMA undergoes N-oxidation appears to be polymorphic in a British white population study (n=169). Two propositi were identified with relative TMA N-oxidation deficiency that was further confirmed by oral challenge with TMA (600 mg). The study of the families of the two propositi, as well as those of two identified subjects with trimethylaminuria, under both normal dietary conditions and after oral TMA challenge strongly indicates that the conditions of impaired N-oxidation is inherited as a recessive trait. It is proposed that the N-oxidation of TMA in humans is polymorphic and under single gene diallelic control in which individuals who are homozygous for the variant allele exhibit marked N-oxidation deficiency and trimethylaminuria.