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首页> 外文期刊>Environmental Medicine >The Involvement of 3beta-hydroxysterol-DELTA~(24)-reductase, A Post-squalene Enzyme in Cholesterol Biosynthesis, in Desmosterolosis
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The Involvement of 3beta-hydroxysterol-DELTA~(24)-reductase, A Post-squalene Enzyme in Cholesterol Biosynthesis, in Desmosterolosis

机译：角鲨烯后酶3β-羟基甾醇-DELTA〜（24）-还原酶与胆固醇的合成有关。

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摘要

As a structural component of mammalian cell membranes, cholesterol is essential for increasing the rigidity of the lipid bilayer and thus decreasing membrane fluidity and permeability. Cholesterol or its precursors are also essential for the synthesis of a wide variety of molecules that affect diverse physiological functions including nutrient absorption, vitamin balance, stress responses, reproductive function and osmoregulation. Hence, an elaborate regulatory system involving more than 100 genes has evolved to maintain the concentration of cholesterol within narrow limits. During the past 10 years, a number of defects in the late stages of the biosynthetic pathway have been associated with diseases. These diseases are linked with the accumulation of a variety of intermediate precursors which will in many cases at least partially compensate for the associated hypocholesterolemia. One such condition is desmosterolosis, an autosomal recessive disorder which results from mutations in the 3beta-hydroxysterol-DELTA~(24)-reductase gene. The associated pathology underscores the essential roles of cholesterol not only in the maintenance of normal cell functioning but also during ontogeny. The discovery of this and other post-squalene genetic disorders provides a new tool to better understand the essential roles of cholesterol in homeostasis.
机译：作为哺乳动物细胞膜的结构成分，胆固醇对于增加脂质双层的刚性从而降低膜的流动性和渗透性至关重要。胆固醇或其前体对于合成影响多种生理功能（包括营养吸收，维生素平衡，应激反应，生殖功能和渗透调节）的多种分子也是必不可少的。因此，已经开发出了涉及100多个基因的精细调节系统，可将胆固醇浓度保持在狭窄的范围内。在过去的十年中，生物合成途径后期的许多缺陷与疾病有关。这些疾病与多种中间体前体的积累有关，这些中间体在许多情况下将至少部分补偿相关的低胆固醇血症。一种这样的病症是去油甾醇增多症，这是一种常染色体隐性遗传疾病，由3β-羟基甾醇-DELTA〜（24）-还原酶基因的突变引起。相关的病理学强调胆固醇不仅在维持正常细胞功能方面而且在个体发育过程中都起着至关重要的作用。这种和其他角鲨烯后遗传疾病的发现为更好地了解胆固醇在体内平衡中的重要作用提供了新的工具。

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