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高脂血症所引起的冠心病是全球重大的卫生问题,获得了广泛的关注。血浆中高水平的LDL-C是常染色体显性遗传性高胆固醇血症的主要特征,PCSK9是新近发现的涉及常染色体显性高胆固醇血症的第三个基因,它在胆固醇代谢中起了重要作用。PCSK9的过度表达引起血浆LDL-C水平升高,机制是转录后事件导致LDLR下调。其多态性位点E670G可作为高血浆LDL-C水平的独立预测因子,并与冠状动脉粥样硬化的严重程度相关。随着对PCSK9功能及机制的进一步理解,将扩展我们有关LDL代谢的知识,发展新的血脂控制药物,有助于对冠心病的预防,诊断和治疗。
Coronary heart disease caused by hyperlipidemia is a major global health problem and has gained widespread attention. High levels of LDL-C in plasma are a hallmark feature of autosomal dominant hypercholesterolemia, a newly discovered third gene involved in autosomal-dominant hypercholesterolemia that plays an important role in cholesterol metabolism effect. Overexpression of PCSK9 causes an increase in plasma LDL-C levels by a mechanism of post-transcriptional events leading to the downregulation of LDLR. The polymorphic site E670G can be used as an independent predictor of high plasma LDL-C levels and is associated with the severity of coronary atherosclerosis. A further understanding of the function and mechanism of PCSK9 will extend our knowledge of LDL metabolism and develop new lipid-controlling drugs that contribute to the prevention, diagnosis and treatment of coronary heart disease.