Journal
JOURNAL OF LIPID RESEARCH
Volume 52, Issue 11, Pages 1885-1926Publisher
ELSEVIER
DOI: 10.1194/jlr.R017855
Keywords
intestinal sterol absorption and efflux; cellular cholesterol synthesis; lipoprotein assembly; gallstones; LDL uptake
Categories
Funding
- University of Modena and Reggio Emilia
- Fondazione Cassa di Risparmio di Modena
- British Heart Foundation
- Medical Research Council
- William Harvey Research Institute
- MRC [MC_U120074258] Funding Source: UKRI
- Medical Research Council [MC_U120074258] Funding Source: researchfish
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This review integrates historical biochemical and modern genetic findings that underpin our understanding of the low-density lipoprotein (LDL) dyslipidemias that bear on human disease. These range from life-threatening conditions of infancy through severe coronary heart disease of young adulthood, to indolent disorders of middle-and old-age. We particularly focus on the biological aspects of those gene mutations and variants that impact on sterol absorption and hepatobiliary excretion via specific membrane transporter systems (NPC1L1, ABCG5/8); the incorporation of dietary sterols (MTP) and of de novo synthesized lipids (HMGCR, TRIB1) into apoB-containing lipoproteins (APOB) and their release into the circulation (ANGPTL3, SARA2, SORT1); and receptor-mediated uptake of LDL and of intestinal and hepatic-derived lipoprotein remnants (LDLR, APOB, APOE, LDLRAP1, PCSK9, IDOL). The insights gained from integrating the wealth of genetic data with biological processes have important implications for the classification of clinical and presymptomatic diagnoses of traditional LDL dyslipidemias, sitosterolemia, and newly emerging phenotypes, as well as their management through both nutritional and pharmaceutical means.-Calandra, S., P. Tarugi, H. E. Speedy, A. F. Dean, S. Bertolini, and C. C. Shoulders. Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. J. Lipid Res. 2011. 52: 1885-1926.
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