[Molecular basis of familial hypercholesterolemia-like phenotype heterogeneity].
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.
Wang
Lü-Ya
LY
Beijing Institute of Heart Lung and Blood Vessel Diseases-Beijing Anzhen Hospital, Affiliated of Capital University of Medical Sciences, Beijing 100029, China. wangluya@sina.com
Lin
Jie
J
Liu
Shu
S
Chen
Bao-Sheng
BS
D000818:Animals; D053299:Apolipoprotein B-100 / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D011973:Receptors, LDL / Q000235:genetics*; D012697:Serine Endopeptidases / Q000235:genetics
D053299:Apolipoprotein B-100; D011973:Receptors, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases