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1 School of Surgery and Pathology, and
2 School of Medicine and Pharmacology, University of Western Australia, Crawley WA, Australia.
3 Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, Perth WA, Australia.
aAddress correspondence to this author at: Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, GPO Box X2213, Perth, WA 6847, Australia. Fax 61-8-9224-1489; e-mail john.burnett{at}health.wa.gov.au.
Abstract
Background: Plasma lipoproteins are important determinants of atherosclerosis. Apolipoprotein (apo) B is a large, amphipathic glycoprotein that plays a central role in human lipoprotein metabolism. Two forms of apoB are produced from the APOB gene by a unique posttranscriptional editing process: apoB-48, which is required for chylomicron production in the small intestine, and apoB-100, required for VLDL production in the liver. In addition to being the essential structural component of VLDL, apoB-100 is the ligand for LDL-receptor-mediated endocytosis of LDL particles.
Content: The study of monogenic dyslipidemias has revealed important aspects of metabolic pathways. In this review, we discuss the regulation of apoB metabolism and examine how APOB gene defects can lead to both hypo- and hypercholesterolemia. The key clinical, metabolic, and genetic features of familial hypobetalipoproteinemia and familial ligand-defective apoB-100 are described.
Summary: Missense mutations in the LDL-receptor-binding domain of apoB cause familial ligand-defective apoB-100, characterized by hypercholesterolemia and premature coronary artery disease. Other mutations in APOB can cause familial hypobetalipoproteinemia, characterized by hypocholesterolemia and resistance to atherosclerosis. These naturally occurring mutations reveal key domains in apoB and demonstrate how monogenic dyslipidemias can provide insight into biologically important mechanisms.
The following articles in journals at HighWire Press have cited this article:
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  J. R. Burnett and G. F. Watts Estimating LDL ApoB: Infomania or Clinical Advance? Clin. Chem., May 1, 2008; 54(5): 782 - 784. [Full Text] [PDF]
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 K. E Liyanage, A. J Hooper, J. C Defesche, J. R Burnett, and F. M van Bockxmeer High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations Ann Clin Biochem, March 1, 2008; 45(2): 170 - 176. [Abstract] [Full Text] [PDF]
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 S. L. Hrizo, V. Gusarova, D. M. Habiel, J. L. Goeckeler, E. A. Fisher, and J. L. Brodsky The Hsp110 Molecular Chaperone Stabilizes Apolipoprotein B from Endoplasmic Reticulum-associated Degradation (ERAD) J. Biol. Chem., November 9, 2007; 282(45): 32665 - 32675. [Abstract] [Full Text] [PDF]
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 A. Aartsma-Rus and G.-J. B. van Ommen Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications RNA, October 1, 2007; 13(10): 1609 - 1624. [Abstract] [Full Text] [PDF]
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 M. K Ito ISIS 301012 Gene Therapy for Hypercholesterolemia: Sense, Antisense, or Nonsense? Ann. Pharmacother., October 1, 2007; 41(10): 1669 - 1678. [Abstract] [Full Text] [PDF]
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J. R. Burnett, S. Zhong, Z. G. Jiang, A. J. Hooper, E. A. Fisher, R. S. McLeod, Y. Zhao, P. H. R. Barrett, R. A. Hegele, F. M. van Bockxmeer, et al. Missense Mutations in APOB within the beta{alpha}1 Domain of Human APOB-100 Result in Impaired Secretion of ApoB and ApoB-containing Lipoproteins in Familial Hypobetalipoproteinemia J. Biol. Chem., August 17, 2007; 282(33): 24270 - 24283. [Abstract] [Full Text] [PDF]
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 A. J. Hooper, K. Robertson, P. H. R. Barrett, K. G. Parhofer, F. M. van Bockxmeer, and J. R. Burnett Postprandial Lipoprotein Metabolism in Familial Hypobetalipoproteinemia J. Clin. Endocrinol. Metab., April 1, 2007; 92(4): 1474 - 1478. [Abstract] [Full Text] [PDF]
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 G. Florvall, S. Basu, and A. Larsson Apolipoprotein A1 Is a Stronger Prognostic Marker Than Are HDL and LDL Cholesterol for Cardiovascular Disease and Mortality in Elderly Men J. Gerontol. A Biol. Sci. Med. Sci., December 1, 2006; 61(12): 1262 - 1266. [Abstract] [Full Text] [PDF]
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 J. G. Safar, H. Wille, M. D. Geschwind, C. Deering, D. Latawiec, A. Serban, D. J. King, G. Legname, K. H. Weisgraber, R. W. Mahley, et al. Human prions and plasma lipoproteins PNAS, July 25, 2006; 103(30): 11312 - 11317. [Abstract] [Full Text] [PDF]
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M. W. Clarke, A. J. Hooper, H. A. Headlam, J. H.Y. Wu, K. D. Croft, and J. R. Burnett Assessment of Tocopherol Metabolism and Oxidative Stress in Familial Hypobetalipoproteinemia Clin. Chem., July 1, 2006; 52(7): 1339 - 1345. [Abstract] [Full Text] [PDF]
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 R. R. Sankatsing, S. W. Fouchier, S. de Haan, B. A. Hutten, E. de Groot, J. J.P. Kastelein, and E. S.G. Stroes Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia Arterioscler. Thromb. Vasc. Biol., September 1, 2005; 25(9): 1979 - 1984. [Abstract] [Full Text] [PDF]
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A. J. Whitfield, P. H. R. Barrett, K. Robertson, M. F. Havlat, F. M. van Bockxmeer, and J. R. Burnett Liver Dysfunction and Steatosis in Familial Hypobetalipoproteinemia Clin. Chem., January 1, 2005; 51(1): 266 - 269. [Abstract] [Full Text] [PDF]
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