title: Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease).
abstract: OBJECTIVE
  Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations. The aim of this article was to analyze the mechanisms responsible for the low plasma apolipoprotein Apo-B100 and Apo-AI in 2 patients with Anderson disease.
  
  
  RESULTS
  A primed constant infusion of (13)C-leucine was administered for 14 hours to determine the kinetics of lipoproteins. In the 2 patients, total cholesterol (77 and 85 mg/dL versus 155±32 mg/dL), triglycerides (36 and 59 versus 82±24 mg/dL), Apo-B100 (48 and 43 versus 71±5 mg/dL), and Apo-AI (47 and 62 versus 130±7 mg/dL) were lower compared with 6 healthy individuals. Very-low-density lipoprotein-B100 production rate of the patients was lower (4.08 and 5.52 mg/kg/day versus 12.96±2.88 mg/kg/day) as was the fractional catabolic rate (5.04 and 4.32 day(-1) versus 12.24±3.84 day(-1)). No difference was observed in intermediate-density lipoprotein-B100 and LDL-B100 kinetic data. The production rate of high-density lipoprotein Apo-AI was lower in the patients (7.92 and 8.64 versus 11.96±1.92 mg/kg/day) and the fractional catabolic rate was higher (0.38 and 0.29 versus 0.22±0.01 day(-1)).
  
  
  CONCLUSIONS
  The low plasma Apo-B100 and Apo-AI concentrations in the patients with Anderson disease were mainly related to low rates of production.
authors.affiliation: INSERM UMR 1087/CNRS UMR 6291 and CRNH Nantes, IRT-UN, Nantes, France.
authors.forename: Khadija
authors.initials: K
authors.lastname: Ouguerram
authors.forename: Yassine
authors.initials: Y
authors.lastname: Zaïr
authors.forename: Fatima
authors.initials: F
authors.lastname: Kasbi-Chadli
authors.forename: Hassane
authors.initials: H
authors.lastname: Nazih
authors.forename: Dominique
authors.initials: D
authors.lastname: Bligny
authors.forename: Jacques
authors.initials: J
authors.lastname: Schmitz
authors.forename: Thomas
authors.initials: T
authors.lastname: Aparicio
authors.forename: Maud
authors.initials: M
authors.lastname: Chétiveaux
authors.forename: Thierry
authors.initials: T
authors.lastname: Magot
authors.forename: Laurence P
authors.initials: LP
authors.lastname: Aggerbeck
authors.forename: Marie Elisabeth
authors.initials: ME
authors.lastname: Samson-Bouma
authors.forename: Michel
authors.initials: M
authors.lastname: Krempf
mesh_terms: D000328:Adult; D016632:Apolipoprotein A-I / Q000097:blood*; D053299:Apolipoprotein B-100 / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D002247:Carbon Isotopes; D002784:Cholesterol / Q000097:blood; D015536:Down-Regulation; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000235:genetics; D007700:Kinetics; D007930:Leucine / Q000008:administration & dosage / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008286:Malabsorption Syndromes / Q000097:blood* / Q000235:genetics; D008297:Male; D008954:Models, Biological; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D014280:Triglycerides / Q000097:blood
chemical_list: C505693:APOA1 protein, human; D016632:Apolipoprotein A-I; D053299:Apolipoprotein B-100; D015415:Biomarkers; D002247:Carbon Isotopes; D008079:Lipoproteins, VLDL; D014280:Triglycerides; D002784:Cholesterol; C513282:SAR1B protein, human; D020559:Monomeric GTP-Binding Proteins; D007930:Leucine