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Related Experiment Videos

[Low density lipoprotein receptor and hypercholesterolemia]

E Bruckert1, J Chapman

  • 1Service d'endocrinologie-métabolisme, INSERM Unité 321, Paris.

La Revue Du Praticien
|May 15, 1994
PubMed
Summary
This summary is machine-generated.

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[Hypercholesterolemia, from screening to treatment: Who, why and how to manage].

La Revue de medecine interne·2020
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Psychological predictors of the combined adoption of physical exercise and dietary change among adults with hypercholesterolemia.

Revue d'epidemiologie et de sante publique·2018
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Lipoprotein-associated phospholipase A₂ activity is increased in patients with definite familial hypercholesterolemia compared with other forms of hypercholesterolemia.

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Consensus statement on the management of dyslipidaemias in adults.

Annales d'endocrinologie·2017

Familial hypercholesterolaemia, a common genetic disorder, involves high cholesterol due to LDL receptor defects. Research by Brown and Goldstein illuminated cellular cholesterol metabolism and LDL receptor function, paving the way for new therapies.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Context:

  • Familial hypercholesterolaemia is the most common monogenic disorder.
  • Understanding cholesterol and low-density lipoprotein (LDL) metabolism at the cellular level is crucial for managing hyperlipidemias.
  • The foundational work of Brown and Goldstein significantly advanced the field.

Purpose:

  • To elucidate the cellular mechanisms underlying familial hypercholesterolaemia.
  • To explore the structure-function relationship of the LDL receptor.
  • To highlight the atherogenic role of LDL cholesterol in humans.

Summary:

  • Brown and Goldstein identified a ubiquitous receptor responsible for cellular uptake of LDL cholesterol.
  • Studies detailed numerous LDL receptor mutations, providing insights into protein structure and function.

Related Experiment Videos

  • Familial hypercholesterolaemia serves as a model for understanding LDL cholesterol's role in atherosclerosis.

    • Impact:

    • This research revolutionized the understanding of cholesterol metabolism.
    • It led to the development of novel therapeutic strategies, including LDL apheresis, statins, and gene therapy.
    • The findings established a clear link between LDL cholesterol and cardiovascular disease.