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Low-density lipoprotein receptor--its structure, function, and mutations.

Joep C Defesche1

  • 1Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, The Netherlands. j.defesche@amc.uva.nl

Seminars in Vascular Medicine
|June 17, 2004
PubMed
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Mutations in the low-density lipoprotein (LDL)-receptor gene disrupt cholesterol uptake, leading to familial hypercholesterolemia. These genetic defects affect receptor processing, binding, and cellular uptake, causing varied disease severity.

Area of Science:

  • Molecular biology
  • Cell biology
  • Biochemistry

Background:

  • Cholesterol uptake via the low-density lipoprotein (LDL)-receptor is vital for lipoprotein metabolism.
  • The LDL-receptor facilitates cellular uptake of lipoproteins containing apolipoprotein B and E.

Purpose of the Study:

  • To elucidate the posttranslational processing, trafficking, and function of the LDL-receptor.
  • To understand how mutations in the LDL-receptor gene lead to familial hypercholesterolemia.

Main Methods:

  • The study describes the synthesis and maturation of the LDL-receptor from the rough endoplasmic reticulum to the cell surface.
  • It details the receptor's role in binding LDL particles and internalization via receptor-mediated endocytosis.
  • It discusses the impact of LDL-receptor gene mutations on these processes.

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Main Results:

  • LDL-receptor precursor protein (120 kDa) is synthesized in the ER with immature O-linked carbohydrates.
  • Maturation in the Golgi apparatus elongates sugar chains, increasing molecular weight to 160 kDa.
  • Mature receptors localize to clathrin-rich coated pits for LDL binding and endocytosis.

Conclusions:

  • Mutations in the LDL-receptor gene impair various stages of receptor function, including posttranslational modification, LDL binding, and endocytosis.
  • These defects invariably result in familial hypercholesterolemia, with variable clinical manifestations depending on the mutation's impact.