Lipid disorders and mutations in the APOB gene

Whitfield, Amanda J; Barrett, P Hugh R; van Bockxmeer, Frank M; Burnett, John R

doi:10.1373/clinchem.2004.038026

Cited by 243Lipid metabolism and disordersLipoproteins and Cardiovascular HealthCholesterol and Lipid Metabolism

Lipid disorders and mutations in the APOB gene

Whitfield, Amanda J, Barrett, P Hugh R, van Bockxmeer, Frank M, Burnett, John R·2004·Clinical Chemistry

DOI 10.1373/clinchem.2004.038026

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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.

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From Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears (2014) · cites this paper as Whitfield et al., 2004
APOB produces apolipoprotein B (apoB), the primary lipid-binding protein of chylomicrons and low-density lipoproteins (LDL).
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From Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears (2014) · cites this paper as Whitfield et al., 2004

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Authors: Whitfield, A. J., Barrett, P. H. R., van Bockxmeer, F. M., & Burnett, J. R.
Affiliations: School of Surgery and Pathology, and
The University of Western Australia (AU)
Corresponding author: Burnett, John R
ORCID: Barrett, P Hugh R
Burnett, John R
Venue: Clinical Chemistry
Publisher: Oxford University Press (OUP)
Published: 2004-10-01
Volume: 50
Issue: 10
Pages: 1725-1732
ISSN: 0009-9147 (ISSN-L)
1530-8561
DOI: 10.1373/clinchem.2004.038026
OpenAlex: W2151580122
Cited by: 243
References: 52
Citations by year: 2026: 10 · 2025: 7 · 2024: 17 · 2023: 18 · 2022: 15 · 2021: 16 · 2020: 12 · 2019: 5 · 2018: 11 · 2017: 10 · 2016: 12 · 2015: 14 · 2014: 12 · 2013: 7 · 2012: 10
FWCI: 1.72
Type: journal article
Language: en
Open access: closed
Licence: academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
Locations: Clinical Chemistry (publishedVersion)
PubMed (publishedVersion)
UWA Profiles and Research Repository (UWA) (submittedVersion)
Funders: Royal Perth Hospital Medical Research Foundation
National Heart Foundation of Australia
Raine Medical Research Foundation
National Institutes of Health
National Institute of Biomedical Imaging and Bioengineering (EB-001975, P41EB001975)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Keywords: apolipoprotein B, familial hypobetalipoproteinemia, hypercholesterolemia, hypocholesterolemia, LDL receptor binding, apolipoprotein B-100, apoB-48, VLDL, chylomicrons, atherosclerosis, coronary artery disease
MeSH terms: Apolipoproteins B, Humans, Hyperlipidemias, Mutation

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Lipid disorders and mutations in the APOB gene

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