TY - JOUR
T1 - Biochemical, clinical, genetic and metabolic studies of hyperapo-β-lipoproteinaemia
AU - Kwiterovich, P. O.
PY - 1988/3
Y1 - 1988/3
N2 - Hyperapo-β-lipoproteinaemia is a common lipoprotein disorder characterized by an elevated plasma level of the major apolipoprotein, B (apoB) of low-density β lipoproteins (LDL), combined with a low ratio of LDL cholesterol to LDL apoB. Hyperapo-β-lipoproteinaemia is due to the overproduction of LDL apoB that results from an enhanced synthesis of very low-density (pre-β) lipoprotein (VLDL) in liver. The plasma levels of high-density (α) lipoprotein (HDL) and its major apolipoprotein, A-I, are often low in hyperapo-β-lipoproteinaemia. Hyperapo-β-lipoproteinaemia is often familial and aggregates in children and adults from families with premature coronary artery disease. The precise defect(s) that cause hyperapo-β-lipoproteinaemia are not known. In a family with premature coronary artery disease and hyperapo-β-lipoproteinaemia, a mutation in codon 4046 in exon 29 of the apolipoprotein B gene, a CGG to TGG transition produced a change from arginine, a positively charged amino acid, to tryptophan, a hydrophobic amino acid, at position 4,019 of the mature apolipoprotein B protein. Decreased incorporation of free fatty acids into triglycerides of adipocytes has been described in vitro, and in vivo studies suggested a defect in clearance of postprandial lipoproteins associated with decreased uptake of plasma free fatty acids.
AB - Hyperapo-β-lipoproteinaemia is a common lipoprotein disorder characterized by an elevated plasma level of the major apolipoprotein, B (apoB) of low-density β lipoproteins (LDL), combined with a low ratio of LDL cholesterol to LDL apoB. Hyperapo-β-lipoproteinaemia is due to the overproduction of LDL apoB that results from an enhanced synthesis of very low-density (pre-β) lipoprotein (VLDL) in liver. The plasma levels of high-density (α) lipoprotein (HDL) and its major apolipoprotein, A-I, are often low in hyperapo-β-lipoproteinaemia. Hyperapo-β-lipoproteinaemia is often familial and aggregates in children and adults from families with premature coronary artery disease. The precise defect(s) that cause hyperapo-β-lipoproteinaemia are not known. In a family with premature coronary artery disease and hyperapo-β-lipoproteinaemia, a mutation in codon 4046 in exon 29 of the apolipoprotein B gene, a CGG to TGG transition produced a change from arginine, a positively charged amino acid, to tryptophan, a hydrophobic amino acid, at position 4,019 of the mature apolipoprotein B protein. Decreased incorporation of free fatty acids into triglycerides of adipocytes has been described in vitro, and in vivo studies suggested a defect in clearance of postprandial lipoproteins associated with decreased uptake of plasma free fatty acids.
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U2 - 10.1007/BF01800571
DO - 10.1007/BF01800571
M3 - Article
C2 - 3141687
AN - SCOPUS:0023859254
SN - 0141-8955
VL - 11
SP - 57
EP - 73
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 1 Supplement
ER -