【摘要】 家族性高胆固醇血症(FH)是由于低密度脂蛋白受体(LDLR)基因突变,致使细胞表面LDLR蛋白功能缺陷,导致血浆低密度脂蛋白(LDL)大幅度增高,并可导致早发冠心病。“FH”已经成为携带LDLR基因突变患者的同意词,但日益增多的研究证实,其他6种基因突变也可通过不同机制导致FH样表型。这些致病基因的发现,促进胆固醇代谢的研究进入新领域,有助于深入探讨胆固醇代谢的调节机制,并将为FH样表型的诊断和治疗提供新的理论依据。文章就有关FH样表型遗传异质性的分子基础研究的近况作一简要综述,以引起人们的关注。更多还原

【Abstract】 Familial hypercholesterolemia (FH),which is caused by low-density lipoprotein (LDL) receptor mutation,leads to LDL-R dysfunction and high plasma LDL level and early onset of cardiovascular disease.LDL-R mutation has been regarded as the only cause of FH phenotype.However,evidences from recent studies showed that another six gene mutations can also result in FH like phenotype through different mechanism.Further studies on these genes will clarify the mechanism of plasma LDL regulation and provide the molecular basis for the diagnosis and treatment of patients with FH-like phenotype.This review summarizes recent studies on the molecular basis of FH-like phenotype heterogeneity in the hope of drawing more attention to the disease.更多还原