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Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation.
J Lipid Res. 2004 May; 45(5):866-72.JL

Abstract

Early radiokinetic studies revealed that the classical metabolic defect in patients with familial hypercholesterolemia (FH) is hypocatabolism of LDL due to decreased LDL receptor activity. However, recent studies have suggested that hepatic oversecretion of apolipoprotein B-100 (apoB-100)-containing lipoproteins could also contribute to the markedly elevated plasma concentrations of LDL-cholesterol found in FH. The aim of this study was to examine the kinetics of apoB-100 labeled with a stable isotope (l-[5,5,5-D(3)] leucine) in five normolipidemic controls and in seven well-characterized FH subjects that included six FH heterozygotes and one FH homozygote carrying the same null LDL receptor gene mutation. As compared with controls, the VLDL apoB-100 production rate was increased by 50% in the FH heterozygotes and by 109% in the FH homozygote. Furthermore, FH subjects had significantly higher LDL apoB-100 pool size and lower LDL apoB-100 fractional catabolic rate than controls. These results indicate that the elevation of plasma LDL-cholesterol found in FH is attributable to both decreased clearance of LDL and increased hepatic production of apoB-100-containing lipoproteins.

Authors+Show Affiliations

Lipid Research Center, CHUL Research Center, Québec, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

14967814

Citation

Tremblay, André J., et al. "Increased Production of VLDL apoB-100 in Subjects With Familial Hypercholesterolemia Carrying the Same Null LDL Receptor Gene Mutation." Journal of Lipid Research, vol. 45, no. 5, 2004, pp. 866-72.
Tremblay AJ, Lamarche B, Ruel IL, et al. Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation. J Lipid Res. 2004;45(5):866-72.
Tremblay, A. J., Lamarche, B., Ruel, I. L., Hogue, J. C., Bergeron, J., Gagné, C., & Couture, P. (2004). Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation. Journal of Lipid Research, 45(5), 866-72.
Tremblay AJ, et al. Increased Production of VLDL apoB-100 in Subjects With Familial Hypercholesterolemia Carrying the Same Null LDL Receptor Gene Mutation. J Lipid Res. 2004;45(5):866-72. PubMed PMID: 14967814.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation. AU - Tremblay,André J, AU - Lamarche,Benoît, AU - Ruel,Isabelle L, AU - Hogue,Jean-Charles, AU - Bergeron,Jean, AU - Gagné,Claude, AU - Couture,Patrick, Y1 - 2004/02/16/ PY - 2004/2/18/pubmed PY - 2005/3/19/medline PY - 2004/2/18/entrez SP - 866 EP - 72 JF - Journal of lipid research JO - J. Lipid Res. VL - 45 IS - 5 N2 - Early radiokinetic studies revealed that the classical metabolic defect in patients with familial hypercholesterolemia (FH) is hypocatabolism of LDL due to decreased LDL receptor activity. However, recent studies have suggested that hepatic oversecretion of apolipoprotein B-100 (apoB-100)-containing lipoproteins could also contribute to the markedly elevated plasma concentrations of LDL-cholesterol found in FH. The aim of this study was to examine the kinetics of apoB-100 labeled with a stable isotope (l-[5,5,5-D(3)] leucine) in five normolipidemic controls and in seven well-characterized FH subjects that included six FH heterozygotes and one FH homozygote carrying the same null LDL receptor gene mutation. As compared with controls, the VLDL apoB-100 production rate was increased by 50% in the FH heterozygotes and by 109% in the FH homozygote. Furthermore, FH subjects had significantly higher LDL apoB-100 pool size and lower LDL apoB-100 fractional catabolic rate than controls. These results indicate that the elevation of plasma LDL-cholesterol found in FH is attributable to both decreased clearance of LDL and increased hepatic production of apoB-100-containing lipoproteins. SN - 0022-2275 UR - https://www.unboundmedicine.com/medline/citation/14967814/Increased_production_of_VLDL_apoB_100_in_subjects_with_familial_hypercholesterolemia_carrying_the_same_null_LDL_receptor_gene_mutation_ L2 - http://www.jlr.org/cgi/pmidlookup?view=long&pmid=14967814 DB - PRIME DP - Unbound Medicine ER -