title: Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Australia.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Australia.
authors.forename: Ken
authors.initials: K
authors.lastname: Robertson
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia.
authors.forename: Danie
authors.initials: D
authors.lastname: Champain
authors.affiliation: Department of Radiology, Royal Perth Hospital, Perth, Australia.
authors.forename: Jianmin
authors.initials: J
authors.lastname: Hua
authors.affiliation: Department of Radiology, Royal Perth Hospital, Perth, Australia.
authors.forename: Swithin
authors.initials: S
authors.lastname: Song
authors.affiliation: Medical Department II, Grosshadern, University of Munich, Munich, Germany.
authors.forename: Klaus G
authors.initials: KG
authors.lastname: Parhofer
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia.
authors.forename: P Hugh R
authors.initials: PHR
authors.lastname: Barrett
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Surgery, University of Western Australia, Crawley, Australia.
authors.forename: Frank M
authors.initials: FM
authors.lastname: van Bockxmeer
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia. Electronic address: john.burnett@health.wa.gov.au.
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D000328:Adult; D053299:Apolipoprotein B-100 / Q000097:blood*; D015415:Biomarkers / Q000097:blood*; D016022:Case-Control Studies; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000235:genetics*; D007700:Kinetics; D008055:Lipids / Q000032:analysis; D008079:Lipoproteins, VLDL / Q000378:metabolism*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D055815:Young Adult
chemical_list: C569471:APOB protein, human; D053299:Apolipoprotein B-100; D015415:Biomarkers; D008055:Lipids; D008079:Lipoproteins, VLDL
keywords: Apolipoprotein B; Compartmental modeling; Familial hypobetalipoproteinemia; Kinetics; Lipoprotein; Metabolism