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首页> 外文期刊>Current opinion in lipidology >Genetic basis of sitosterolemia.
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Genetic basis of sitosterolemia.

机译：谷甾醇血症的遗传基础。

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The molecular mechanisms regulating the amount of dietary cholesterol retained by the body, as well as the body's ability to exclude other dietary sterols selectively, are poorly understood. An average Western diet will contain approximately 250-500 mg of dietary cholesterol and approximately 200-400 mg of non-cholesterol sterols, of which plant sterols are the major constituents. Approximately 50-60% of dietary cholesterol is absorbed and retained by the normal human body, but less than 1% of the non-cholesterol sterols are retained. There thus exists a subtle mechanism that allows the body to distinguish between cholesterol and non-cholesterol sterols. In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyperabsorb and retain not only cholesterol but also all other sterols, including plant and shellfish sterols from the intestine. Consequently, patients with this disease have very high levels of plant sterols in the plasma, and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. The STSL locus has been mapped to human chromosome 2p21. Mutations in two tandem ABC genes, ABCG5 and ABCG8, encoding sterolin-1 and -2, respectively, are now known to be mutant in sitosterolemia. The identification of these genes should now lead to a better understanding of the molecular mechanism(s) governing the highly selective absorption and retention of cholesterol by the body. Indeed, it is the very existence of this disease that has given credence to the hypothesis that there is a molecular pathway that regulates dietary cholesterol absorption and sterol excretion by the body.
机译：人们对调节人体所保留的膳食胆固醇量的分子机制以及人体选择性排除其他膳食固醇的能力了解甚少。西方平均饮食中将含有约250-500毫克的膳食胆固醇和约200-400毫克的非胆固醇固醇，其中植物固醇是主要成分。正常人体吸收并保留了约50-60％的饮食胆固醇，但保留了不到1％的非胆固醇固醇。因此，存在一种微妙的机制，使人体能够区分胆固醇和非胆固醇固醇。在谷甾醇血症（一种罕见的常染色体隐性遗传疾病）中，受影响的个体不仅吸收胆固醇，而且还吸收所有其他固醇，包括肠道中的植物和贝类固醇，不仅吸收胆固醇，还保留所有其他固醇。因此，患有这种疾病的患者血浆中的植物甾醇水平非常高，并发展为肌腱和结节性黄瘤，加速动脉粥样硬化和过早的冠状动脉疾病。 STSL基因座已定位于人类2p21号染色体。现在已知两个串联的ABC基因ABCG5和ABCG8的突变分别编码固醇1和-2，它们是谷固醇血症的突变体。这些基因的鉴定现在应该导致人们更好地理解控制机体对胆固醇的高度选择性吸收和保留的分子机制。确实，正是这种疾病的存在证实了一种假设，即存在一条调节人体饮食中胆固醇吸收和固醇排泄的分子途径的假说。

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