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

doi:10.1016/j.clinbiochem.2016.02.008

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 journal › Article › peer-review

3 Citations (Scopus)

344 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 language	English
Pages (from-to)	720-722
Number of pages	3
Journal	Clinical Biochemistry
Volume	49
Issue number	9
Early online date	23 Feb 2016
DOIs	https://doi.org/10.1016/j.clinbiochem.2016.02.008
Publication status	Published - 1 Jun 2016

Access to Document

10.1016/j.clinbiochem.2016.02.008

Hooper 2016 Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote
© 2016, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/
Accepted author manuscript, 173 KBLicence: CC BY-NC-ND

Molecular Mechanisms of Inherited Hypocholesterolaemias - Impact of APOB & MTTP Mutations on Lipoprotein Assembly & Secretion
Hooper, A., Burnett, J. & Van Bockxmeer, F.
NHMRC National Health and Medical Research Council
1/01/11 → 31/12/12
Project: Research

Cite this

@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",

year = "2016",

month = jun,

day = "1",

doi = "10.1016/j.clinbiochem.2016.02.008",

language = "English",

volume = "49",

pages = "720--722",

journal = "Clinical Biochemistry",

issn = "0009-9120",

publisher = "Pergamon",

number = "9",

}

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 - 2016/6/1

Y1 - 2016/6/1

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

C2 - 26916057

SN - 0009-9120

VL - 49

SP - 720

EP - 722

JO - Clinical Biochemistry

JF - Clinical Biochemistry

IS - 9

ER -

Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote

Abstract

Access to Document

Fingerprint

Projects

Molecular Mechanisms of Inherited Hypocholesterolaemias - Impact of APOB & MTTP Mutations on Lipoprotein Assembly & Secretion

Cite this