The microsomal triglyceride transfer protein (MTP), the product of the MTTP gene, is essential for the assembly and secretion of apolipoprotein B-containing lipoproteins, but when defective causes abetalipoproteinemia. Abetalipoproteinemia is a rare autosomal recessive disorder characterized by the inability to produce chylomicrons or very low-density lipoproteins, with the absence of apolipopr...

A bstract. Lipoprotein classes isolated from the plasma of two patients with apolipoprotein Al (apo Al) and apolipoprotein CIII (apo CIII) deficiency were characterized and compared with those of healthy, ageand sex-matched controls. The plasma triglyceride values for patients 1 and 2 were 31 and 51 mg/dl, respectively, and their cholesterol values were 130 and 122 mg/dl, respectively; the pati...

U937 is a monocytic cell-line originally derived from a histiocytic lymphoma. In serum-free medium the growth of U937 cells was stimulated by addition of low density lipoprotein (LDL). Methylation of LDL impaired its ability to be taken up in U937 cells as well as the capacity to stimulate the growth of these cells. Pretreatment of U937 cells with a monoclonal antibody against the LDL receptor ...

Mutations in the apolipoprotein (apo) B, E (LDL) receptor gene and in the apolipoprotein B-100 gene are the cause of familial hypercholesterolemia (FH) and of familial defective apo B-100 (FDB), respectively. Whether these abnormalities lead to altered production or uptake of very low density lipoprotein (VLDL) or intermediate density lipoprotein (IDL) has not been established previously. There...

Familial defective apolipoprotein (apo) B-100 is a recently described genetic disorder that appears to result from a mutation in the apoB-100 gene. This disorder is characterized by hypercholesterolemia resulting from elevated plasma concentrations of low density lipoprotein LDL. The disorder was first detected in three members of one family. The LDL from affected subjects binds defectively (ap...

Familial defective apolipoprotein (apo) B-100 (FDB), a condition that may give rise to hypercholesterolemia, is caused by mutations around codon 3500 of the apo B gene. We have compared the ability of three molecular-scanning techniques, heteroduplex analysis, single-strand conformation polymorphism (SSCP) analysis, and denaturing gradient gel electrophoresis (DGGE), to detect these mutations i...

BACKGROUND Familial defective apolipoprotein (apo) B-100 (FDB) is caused by a mutation in the apoB gene and characterized by decreased binding of LDL to LDL receptors because of reduced function of the apoB-100 ligand. FDB may be associated with severe hypercholesterolemia and cannot always be distinguished from familial hypercholesterolemia phenotypically. METHODS We used a fluorescence flow...

A novel technique for screening point mutations has been developed for diagnosis of familial defective apolipoprotein (apo) B-100 (FDB). In FDB, an amino acid exchange occurs at position 3500 in apoB-100 due to a point mutation. Polymerase chain reaction (PCR) was performed on the appropriate region of the apoB gene, and the PCR products were hybridized in solution with europium-labeled oligonu...

Familial defective apolipoprotein (apo) B-100 is a genetic trait characterized by an Arg----Gln substitution in position 3500 of the apo B sequence. This genetic defect is associated with greatly increased concentrations of plasma cholesterol and may thus increase the risk of developing premature atherosclerotic disease. We describe here the use of mutagenic polymerase chain reaction primers, w...