Recent insights into the pathogenesis of type III hyperlipoproteinemia

Research output: Contribution to journalArticle

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Abstract

Type III hyperlipoproteinemia is a genetic disorder of lipoprotein metabolism characterized by high plasma cholesterol and triglycerides, the presence of a characteristic lipoprotein termed β-very low density lipoprotein (gb-VLDL), xanthomatosis, and premature atherosclerosis. Defects in the gene for apolipoprotein (apo) E represent the molecular cause of this disorder. ApoE serves as a ligand for the receptor-mediated clearance of the triglyceride-rich lipoproteins from the circulation. All defects in apoE cause impaired lipoprotein clearance through the same mechanism, that is, the disruption, either direct or indirect, of the receptor-binding region of the apoE molecule. However, the receptor-binding defect alone does not fully explain the pathogenesis of β-VLDL formation, the development of type III hyperlipoproteinemia, and its mode of inheritance, which can be either recessive or dominant, depending on the apoE mutation. Recent studies suggest that other functional properties of apoE might play a role in the formation of β-VLDL. Modulation of the receptor-binding defect, association with VLDL, heparin-binding affinity, and interaction with lipolytic enzymes could all contribute to the expression of the disease phenotype and determine its mode of inheritance.

Original languageEnglish (US)
Pages (from-to)191-196
Number of pages6
JournalTrends in Cardiovascular Medicine
Volume3
Issue number5
DOIs
StatePublished - 1993
Externally publishedYes

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Hyperlipoproteinemia Type III
Apolipoproteins E
Lipoproteins
Triglycerides
Xanthomatosis
Inborn Genetic Diseases
VLDL Lipoproteins
Heparin
Atherosclerosis
Cholesterol
Ligands
Phenotype
Mutation
Enzymes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Recent insights into the pathogenesis of type III hyperlipoproteinemia. / Fazio, Sergio.

In: Trends in Cardiovascular Medicine, Vol. 3, No. 5, 1993, p. 191-196.

Research output: Contribution to journalArticle

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