[Molecular basis of familial hypercholesterolemia-like phenotype heterogeneity].

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.