Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote

Author(s)
Hooper, Amanda J
Robertson, Ken
Champain, Danie
Hua, Jianmin
Song, Swithin
Parhofer, Klaus G
Barrett, P Hugh R
van Bockxmeer, Frank M
Burnett, John R
Publication Date
2016-06
Abstract
<p>Objective</p> <p>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.</p> <p>Design and Methods</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>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.</p>
Citation
Clinical Biochemistry, 49(9), p. 720-722
ISSN
1873-2933
0009-9120
Pubmed ID
26916057
Link
Publisher
Elsevier Inc
Title
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote
Type of document
Journal Article
Entity Type
Publication

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