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Genetic polymorphism in human apolipoprotein E.

V I Zannis

    Methods in Enzymology
    |January 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    Human apolipoprotein E (apoE) genetic variations create distinct phenotypes. The apoE E2/2 phenotype is a key marker for diagnosing type III hyperlipoproteinemia, linked to reduced LDL receptor affinity.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Molecular Biology

    Background:

    • Human apolipoprotein E (apoE) exhibits significant polymorphism.
    • Genetic variations and posttranslational modifications contribute to apoE complexity.
    • Understanding apoE structure and function is crucial for metabolic disease research.

    Purpose of the Study:

    • To detail methodologies for studying human apoE polymorphism.
    • To elucidate the genetic basis of apoE phenotypes.
    • To establish apoE phenotypes as diagnostic markers for diseases like type III hyperlipoproteinemia.

    Main Methods:

    • Two-dimensional gel electrophoresis to analyze apoE complexity.
    • Genetic analysis to identify apoE alleles (epsilon 4, epsilon 3, epsilon 2).

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  • Biochemical assays to determine apoE binding affinity to LDL receptors.

    • Main Results:

    • Three common apoE alleles (epsilon 4, epsilon 3, epsilon 2) result in six common phenotypes (E4/4, E3/3, E2/2, E4/3, E3/2, E4/2).
    • The apoE E2/2 phenotype is present in 91% of type III hyperlipoproteinemia patients.
    • ApoE2 exhibits reduced affinity for the LDL receptor due to an Arg158 to Cys158 substitution.

    Conclusions:

    • ApoE E2/2 phenotype serves as a valuable molecular marker for type III hyperlipoproteinemia diagnosis.
    • Reduced LDL receptor affinity of apoE2 contributes to lipoprotein remnant accumulation in type III HLP.
    • Phenotypic expression of type III HLP requires additional genetic or environmental factors beyond apoE genotype.