pcsk9基因突变与胆固醇血症

pcsk9 Gene Mutation and Cholesterolemia

常染色体显性高胆固醇血症(ADH)是家族早发性动脉粥样硬化的最主要的危险因素.在与ADH有关的基因突变中,LDL-R、apoB100基因突变导致ADH的机制已经比较明确,而pcsk9基因突变与ADH相关是最近发现的.pcsk9基因编码神经凋亡调节转化酶即NARC-1,它通过在蛋白水平降低肝细胞上LDL受体的数量,使血液中LDL不能被清除,从而与高胆固醇血症相关联.研究pcsk9与LDL之间的关系,探索pcsk9在高胆固醇血症以及动脉粥样硬化发生中的作用及机制,将有助于高胆固醇血症和动脉粥样硬化发病机制的研究,也能为防治高胆固醇血症和动脉粥样硬化提供新思路.

Autosomal dominant hypercholesterolemia （ADH） which is associated mainly with mutations in the genes encoding the low density lipoprotein（LDL） receptor and apoB100, is a major risk factor for family premature atherosclerosis. As the third gene related to ADH, pcsk9 has been found contributes to ADH recently, pcsk9 gene code neural apoptosis- regulated convertase 1 （NARC-1）. It may induce hypereholesterolemia by reducing the level of LDLR on hepatic cells membrane, and influences the remove of LDL from plasma. Studies on pcsk9 including its relationship to LDL and the role in hypereholesterolemia and atherosclerosis may help to clarify the mechanism, and put new sights into prevention of hypereholesterolemia and atheroselerosis.