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首页> 外文期刊>Current opinion in lipidology >Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology
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Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology

机译：了解STSL基因座和ABCG5 / ABCG8生物学的最新进展

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PURPOSE OF REVIEW: To provide an update on recent advances made in our mechanistic and pathophysiological understanding of the rare human disease Sitosterolemia, the role of ABCG5/ABCG8 in sterol trafficking and how newer data implicate a more wider role in the body. RECENT FINDINGS: Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus. Polymorphic variations in STSL have been linked to lipid levels and gallstone disease in whites. Newer studies now link this locus to a more diverse ethnic group for gallstone disease, susceptibility to biliary cancer, and show variants that alter sterolin function. Intriguingly, carriers of a mutant allele seem to show protection against carotid wall disease. Although the 'promoter' region of the STSL is minimal, regulatory regions responsive to liver X receptor have remained elusive, but no longer; two intronic regions in ABCG8 have now been identified. Xenosterol accumulation leads to loss of abdominal fat, infertility, and premature death. Xenosterol accumulation in mouse platelet membranes leads to platelet hyperactivation, increased microparticle formation, and reduced αIIbβ3 surface expression. In humans, phytosterols may promote liver injury in parenteral nutrition-associated liver disease. SUMMARY: Progress in understanding sterolin function is beginning to show that xenosterols can be toxic and are involved on pathogenesis, and the role of ABCG5/ABCG8 may extend into other metabolic processes by altering intracellular sterol metabolism.
机译：审查目的：提供有关我们在罕见的人类疾病Sitosterolemia的机制和病理生理理解，ABCG5 / ABCG8在固醇运输中的作用以及最新数据如何在体内发挥更大作用的最新进展的最新信息。最近的发现：谷固醇血症是由映射到STSL基因座的固醇（ABCG5 / ABCG8）的遗传缺陷引起的。 STSL的多态性变异与白人的脂质水平和胆结石疾病有关。现在，较新的研究将这一基因位点与胆结石疾病，胆道癌易感性的更多样化的种族联系起来，并显示了改变固醇功能的变体。有趣的是，突变等位基因的携带者似乎对颈动脉壁疾病显示出保护作用。尽管STSL的“启动子”区域很小，但对肝脏X受体有反应的调节区域仍然难以捉摸，但不再存在。现在已经确定了ABCG8中的两个内含子区域。异戊烯醇的积累会导致腹部脂肪的流失，不育和过早死亡。异戊醇在小鼠血小板膜中的积累导致血小板过度活化，微粒形成增加和αIIbβ3表面表达降低。在人类中，植物甾醇可能在肠胃外营养相关的肝病中促进肝损伤。简介：在了解固醇功能方面的进展开始表明，异固醇可能具有毒性并参与发病机理，并且ABCG5 / ABCG8的作用可能会通过改变细胞内固醇代谢而扩展到其他代谢过程。

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