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Low Density Lipoproteins pp 151–195Cite as

The Hyper-β- and Hyperpre- β-lipoproteinemias

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Abstract

The physiologic role of VLDL and chylomicrons in the transport of triglyceride has been recognized for many years. The important role of LDL in the delivery of cholesterol and phospholipid to the cells of the body, however, has been brought into sharp focus only within the past several years. The studies by Goldstein and Brown have clearly established this role for LDL,1,2 and the disease a-β-lipoproteinemia provides a clinical testimonial to the consequences of defective cholesterol transport by LDL.3 The elegant studies by Goldstein and Brown have demonstrated, in fibroblasts, the presence of receptors which specifically recognize LDL and VLDL, and it is the absence of the high-affinity LDL receptor which characterizes the homozygous subject with familial hyper-β-lipoproteinemia.4,5 These individuals and their heterozygous kindred, who have a decrease but not an absence in the number of high-affinity receptors, have a resultant impairment in LDL catabolism with increased concentrations of plasma LDL. The major clinical consequence of this hyper-β-lipoproteinemia is the development of premature atherosclerosis.

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  1. J. Hillis Miller Health Center, Department of Medicine, University of Florida, Box J226, Gainesville, Florida, 32610, USA

    Waldo R. Fisher

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  1. The Upjohn Company, Kalamazoo, Michigan, USA

    Charles E. Day

  2. Department of Biochemistry, University of Louisville School of Medicine, Louisville, Kentucky, USA

    Robert S. Levy

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Fisher, W.R. (1976). The Hyper-β- and Hyperpre- β-lipoproteinemias. In: Day, C.E., Levy, R.S. (eds) Low Density Lipoproteins. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-2250-4_7

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