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

    Research output: Contribution to journalArticle

    1 Citation (Scopus)
    132 Downloads (Pure)

    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

    Fingerprint

    Hypobetalipoproteinemias
    Apolipoproteins B
    Heterozygote
    Metabolism
    Lipoproteins
    LDL Lipoproteins
    IDL Lipoproteins
    Familial Hypobetalipoproteinemia
    Mutation
    Fasting

    Cite this

    Hooper, Amanda ; Robertson, Kenneth ; Champain, Danie ; Hua, J ; Song, S ; Parhofer, K.G ; Barrett, Hugh ; Van Bockxmeer, Frank ; Burnett, John. / Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote. In: Clinical Biochemistry. 2016 ; Vol. 49, No. 9. pp. 720-722.
    @article{7891791547d04ad6b290b7dc6eea14b7,
    title = "Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote",
    abstract = "ObjectiveFamilial 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 MethodsVery 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.ResultsCompared 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.ConclusionFHBL 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.",
    author = "Amanda Hooper and Kenneth Robertson and Danie Champain and J Hua and S Song and K.G Parhofer and Hugh Barrett and {Van Bockxmeer}, Frank and John Burnett",
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    Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote. / Hooper, Amanda; Robertson, Kenneth; Champain, Danie; Hua, J; Song, S; Parhofer, K.G; Barrett, Hugh; Van Bockxmeer, Frank; Burnett, John.

    In: Clinical Biochemistry, Vol. 49, No. 9, 06.2016, p. 720-722.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote

    AU - Hooper, Amanda

    AU - Robertson, Kenneth

    AU - Champain, Danie

    AU - Hua, J

    AU - Song, S

    AU - Parhofer, K.G

    AU - Barrett, Hugh

    AU - Van Bockxmeer, Frank

    AU - Burnett, John

    PY - 2016/6

    Y1 - 2016/6

    N2 - ObjectiveFamilial 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 MethodsVery 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.ResultsCompared 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.ConclusionFHBL 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.

    AB - ObjectiveFamilial 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 MethodsVery 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.ResultsCompared 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.ConclusionFHBL 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.

    U2 - 10.1016/j.clinbiochem.2016.02.008

    DO - 10.1016/j.clinbiochem.2016.02.008

    M3 - Article

    VL - 49

    SP - 720

    EP - 722

    JO - Clinical Biochemistry

    JF - Clinical Biochemistry

    SN - 0009-9120

    IS - 9

    ER -