Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the low density lipoprotein receptor (LDLR) gene. Two novel LDLR mutations, D151Y and M391T, had been previously identified in unrelated Thai patients with heterozygous FH. To confirm that these mutations cause FH, the functional characteristics of D151Y and M391T, which are located in the fourth cysteine repeat of the ligand-binding domain and in the sixth YWTD repeat of the epidermal growth factor precursor homology domain, respectively, were studied.

Molecular modeling of D151Y and M391T mutations in the LDL receptor.

The low-density lipoprotein receptor (LDLR) is a key regulator of cholesterol homeostasis, and defects in the function of LDLR result in familial hypercholesterolemia (FH). In the present study, we performed structural analyses of two novel LDLR mutations, D151Y and M391T. Both mutations occurred in conserved residues of LDLR.

The in vitro and ex vivo antioxidant properties, hypolipidaemic and antiatherosclerotic activities of water extract of Moringa oleifera Lam. leaves.

Unlabelled: Moringa oleifera is used in Thai traditional medicine as cardiotonic. Recent studies demonstrated its hypocholesterolaemic effect. However, to be clinically useful, more scientific data are needed.

Detection of a known mutation M412T in the LDL receptor in a Chinese Thai FH family.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant hypercholesterolemia caused by mutation in the LDL receptor gene. M412T mutation of the LDL receptor gene was previously observed in a single female patient diagnosed as having primary hypercholesterolemia. However, the analysis was incomplete and there was no confirmation of the M412T as the FH-causing mutation.