McKinnon R A, Nebert D W
Department of Environmental Health, University of Cincinnati Medical Center, Ohio 45267-0056.
Lupus. 1994 Dec;3(6):473-8. doi: 10.1177/096120339400300608.
Cytochromes P450 comprise a superfamily of enzymes pivotal in the metabolism of innumerable substrates of both endogenous and exogenous origin. The total number of distinct P450 genes, each encoding a different enzyme in humans, is estimated to be at least 60 and possibly several hundred. The cytochrome P450 (CYP) superfamily nomenclature system is based on divergent evolution of the genes. Most of the enzymes within gene families CYP1, CYP2, CYP3 and CYP4 appear to have evolved as the body's primary defense against the onslaught of chemicals confronted on a daily basis. Whereas P450 enzymes more than 3.5 billion years ago were undoubtedly designed as necessary components of signal transduction pathways, in the past billion years most P450 enzymes have become generally responsible for the detoxification of numerous foreign chemicals. During such oxidative metabolism, it has become increasingly apparent that these enzymes are also capable of functioning in an ambivalent manner, generating toxic intermediates. More than a dozen human P450 polymorphisms have been characterized. Genetic variability in P450 expression is therefore likely to have significant bearing on individual susceptibility to chemical toxicity. In this review, genetic differences in human P450 expression are outlined, and their possible relationship to autoimmune disease is examined. In addition, the speculative role of P450 polymorphisms in several 'lupus-like' disorders is discussed.
细胞色素P450构成了一个酶的超家族,这些酶在代谢无数内源性和外源性底物中起着关键作用。在人类中,不同的P450基因(每个基因编码一种不同的酶)总数估计至少有60个,甚至可能有数百个。细胞色素P450(CYP)超家族命名系统基于基因的趋异进化。CYP1、CYP2、CYP3和CYP4基因家族中的大多数酶似乎已经进化成为身体抵御日常接触化学物质冲击的主要防御机制。虽然35亿多年前的P450酶无疑被设计为信号转导途径的必要组成部分,但在过去的十亿年里,大多数P450酶已普遍负责对多种外来化学物质进行解毒。在这种氧化代谢过程中,越来越明显的是,这些酶也能够以一种矛盾的方式发挥作用,产生有毒中间体。已经鉴定出十多种人类P450多态性。因此,P450表达的遗传变异性可能对个体对化学毒性的易感性有重大影响。在这篇综述中,概述了人类P450表达的遗传差异,并研究了它们与自身免疫性疾病可能的关系。此外,还讨论了P450多态性在几种“狼疮样”疾病中的推测作用。