title: Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization.
abstract: Abetalipoproteinemia (ABL) and homozygous hypobetalipoproteinemia (HBL) are inherited disorders which are classically characterized by progressive retinal and spinocerebellar disease, fat-soluble vitamin deficiency, and absence of apolipoprotein (apo) B from the plasma. Using immunoaffinity chromatography with an anti-apo B antiserum, we isolated apo B-containing lipoprotein (LpB) particles from the plasma of 4 ABL and 2 HBL patients. The LpB particles were characterized and compared with low density lipoprotein (LDL) and LpB isolated from normal plasma. The ABL/HBL LpB particles were similar in size and charge to normal LpB particles but were relatively enriched in several other apolipoproteins. They contained alpha-tocopherol in a ratio to cholesterol that was proportionately much higher than the very low ratio of alpha-tocopherol to cholesterol in plasma. They bound saturably to fibroblasts and were internalized and degraded similarly to LDL. Hence, the molecular defects in ABL and HBL permit the secretion of a very small number of apo B-containing lipoproteins which may be important for transport of alpha-tocopherol to peripheral tissues.
authors.affiliation: Serlia, Inserm U325, Institut Pasteur, Lille, France.
authors.forename: G A
authors.initials: GA
authors.lastname: Aguie
authors.forename: D J
authors.initials: DJ
authors.lastname: Rader
authors.forename: V
authors.initials: V
authors.lastname: Clavey
authors.forename: M G
authors.initials: MG
authors.lastname: Traber
authors.forename: G
authors.initials: G
authors.lastname: Torpier
authors.forename: H J
authors.initials: HJ
authors.lastname: Kayden
authors.forename: J C
authors.initials: JC
authors.lastname: Fruchart
authors.forename: H B
authors.initials: HB
authors.lastname: Brewer
authors.forename: G
authors.initials: G
authors.lastname: Castro
mesh_terms: D000012:Abetalipoproteinemia / Q000145:classification* / Q000150:complications / Q000235:genetics; D000328:Adult; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000032:analysis* / Q000097:blood / Q000235:genetics; D002784:Cholesterol / Q000097:blood; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000150:complications / Q000235:genetics; D008074:Lipoproteins / Q000097:blood / Q000145:classification / Q000302:isolation & purification*; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010316:Particle Size; D014810:Vitamin E / Q000097:blood*; D014811:Vitamin E Deficiency / Q000097:blood / Q000209:etiology
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008074:Lipoproteins; D008077:Lipoproteins, LDL; D014810:Vitamin E; D002784:Cholesterol