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Related Experiment Videos

Apolipoproteins, quantitative lipoprotein traits and multifactorial hyperlipidaemia.

G Utermann1

  • 1Institute for Medical Biology and Genetics, University of Innsbruck, Austria.

Ciba Foundation Symposium
|January 1, 1987
PubMed
Summary

Genetic variations in apolipoproteins, like apolipoprotein E (apoE) and Lp(a), significantly influence plasma lipoprotein levels. These genetic factors are key contributors to multifactorial hyperlipidaemia, impacting common and rare lipid disorders.

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Area of Science:

  • Human Genetics
  • Molecular Biology
  • Cardiovascular Disease Research

Background:

  • Apolipoproteins are crucial for lipid transport and metabolism.
  • Genetic variations in apolipoproteins are known to influence plasma lipoprotein concentrations.
  • Understanding these variations is vital for comprehending lipid disorders.

Purpose of the Study:

  • To investigate the role of genetic polymorphism in apolipoproteins, specifically apolipoprotein E (apoE) and Lp(a), on plasma lipoprotein concentrations.
  • To explore the association between apoE alleles and the pathogenesis of multifactorial hyperlipidaemia.
  • To examine the genetic control of Lp(a) lipoprotein concentrations.

Main Methods:

  • Analysis of apolipoprotein E (apoE) gene polymorphism, including alleles epsilon 2, epsilon 3, and epsilon 4.

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  • Investigation of the genetic control of Lp(a) lipoprotein complex concentrations.
  • Correlation of apoE alleles with phenotypic variance in plasma lipoprotein concentrations across ethnic groups.
  • Identification of specific mutations associated with hyperlipidaemia subtypes.

    • Main Results:

    • Apolipoprotein E (apoE) polymorphism significantly affects plasma lipoprotein concentrations and is linked to hypertriglyceridaemia, familial type III hyperlipidaemia, and polygenic hypercholesterolaemia.
    • A separate gene locus controls Lp(a) lipoprotein concentrations, with genetic polymorphism in the Lp(a) glycoprotein associated with these concentrations.
    • Variability in apolipoprotein genes is a major genetic factor in the normal variance of population lipoprotein levels and multifactorial hyperlipidaemia.

    Conclusions:

    • Genetic polymorphism in apolipoproteins, particularly apoE and Lp(a), plays a significant role in determining normal variations in plasma lipoprotein concentrations.
    • These genetic variations are implicated as major contributing factors in the development of multifactorial hyperlipidaemia.
    • Further research into apolipoprotein genetics can provide insights into lipid metabolism and cardiovascular disease risk.