PCSK9在高胆固醇血症中的作用研究进展

PCSK9 is Involved in the Development of Hypercholesterolaemia

高胆固醇血症以血中低密度脂蛋白胆固醇(LDL-C)水平升高为特征,PCSK9基因是近几年新发现的与血脂代谢密切相关的基因位点。细胞实验提示,PCSK9主要通过降解低密度脂蛋白受体,升高LDL-C水平;人群中PCSK9可以发生两种突变:功能获得型和功能缺失型,分别引起高胆固醇血症和低胆固醇血症。随着人们对PCSK9研究的不断深入,进一步完善了对胆固醇代谢的认识,抑制PCSK9对脂质代谢紊乱相关疾病的防治有重要意义。

Hypercholesterolaemia is characterized by the increased concentrations of high low density lipoprotein（LDL） plasma.Proprotein convertase subtilisin/kexin type 9（PCSK9） plays a critical role in cholesterol metabolism,which is newly confirmed in recent years.Cell experiments show that PCSK9 can increase the levels of LDL particles circulating in the bloodstream by decreasing low-density lipoprotein receptor（LDLR）.PCSK9 genes can develop two mutations in the general population,namely gain-of-function and loss-of-function,which have been identified and linked to hypercholesterolemia and hypocholesterolemia,respectively.Lower level of LDL-C can be achieved through the combination of the agents suppressing PCSK9 and statins.Further studies on PCSK9 will improve our understanding of cholesterol metabolism.The inhibition of PCSK9 will be helpful for the prevention and treatment of lipid metabolism disorder-related disease.