Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote

Amanda Hooper, Kenneth Robertson, Danie Champain, J Hua, S Song, K.G Parhofer, Hugh Barrett, Frank Van Bockxmeer, John Burnett

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    Abstract

    Objective

    Familial hypobetalipoproteinemia (FHBL) is characterized by mutations in APOB, the majority of these causing protein truncations, and low plasma levels of apolipoprotein (apo) B. The hypobetalipoproteinemia may be due to enhanced clearance and possibly reduced production of apoB-containing lipoproteins; the mechanism may depend on the length of the apoB truncation. We studied fasting lipoprotein metabolism in an FHBL subject heterozygous for a mutation causing a truncated apoB, apoB-80.

    Design and Methods

    Very low density lipoprotein (VLDL)-, intermediate density lipoprotein (IDL)-, and low density lipoprotein (LDL)-apoB kinetics were determined in the fasting state using stable isotope methods and compartmental modeling.

    Results

    Compared with lean normolipidemic controls the apoB-80 FHBL subject had an elevated VLDL-apoB fractional catabolic rate and lower LDL production. ApoB production rates and IDL- and LDL-apoB fractional catabolic rates were not different.

    Conclusion

    FHBL subjects heterozygous for a mutation truncating apoB to 80% of full-length are able to produce VLDL-apoB normally, but have rapid clearance of these particles, resulting in low levels of circulating apoB.
    Original languageEnglish
    Pages (from-to)720-722
    JournalClinical Biochemistry
    Volume49
    Issue number9
    Early online date23 Feb 2016
    DOIs
    Publication statusPublished - Jun 2016

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