title: Plasma lipids, lipoproteins and apolipoproteins in two kindreds of hypobetalipoproteinemia.
abstract: Plasma lipids and apolipoproteins were quantified in two kindreds of hypobetalipoproteinemia. All affected members were asymptomatic but showed a decrease of 75% in apolipoprotein B and of 69% in LDL-cholesterol. There were no major changes in apo A-I and A-II but all affected family members had reduced levels of apo C-II (by 58%) and C-III (by 59%) without significant decrease in apo C-I and no specific decrease of apo C-III1. Apolipoprotein E is decreased in SDS-PAGE. The plasma level and phenotype of Lp(a) are not affected by HBL, suggesting that a catabolic rather than a synthetic mechanism is responsible for the disease. As shown by density gradient ultracentrifugation, HDL2 particles that contain essentially apolipoprotein A-I, cholesterol and phospholipids represent in affected subjects the major part of HDL. Due to the net reduction of apolipoprotein B-containing particles (VLDL and LDL) as acceptors of lipids in HBL, there is an accumulation of large particles rich in cholesteryl esters.
authors.affiliation: Foundation de Recherche sur l'Athérosclérose, Brussels, Belgium.
authors.forename: J F
authors.initials: JF
authors.lastname: Lontie
authors.forename: C L
authors.initials: CL
authors.lastname: Malmendier
authors.forename: C
authors.initials: C
authors.lastname: Serougne
authors.forename: D Y
authors.initials: DY
authors.lastname: Dubois
authors.forename: C
authors.initials: C
authors.lastname: Dachet
authors.forename: J
authors.initials: J
authors.lastname: Ferezou
authors.forename: D
authors.initials: D
authors.lastname: Mathé
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D053304:Apolipoprotein C-II; D053305:Apolipoprotein C-III; D001053:Apolipoproteins / Q000097:blood*; D001056:Apolipoproteins C / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000235:genetics; D007223:Infant; D008055:Lipids / Q000097:blood*; D008074:Lipoproteins / Q000097:blood*; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D053304:Apolipoprotein C-II; D053305:Apolipoprotein C-III; D001053:Apolipoproteins; D001056:Apolipoproteins C; D008055:Lipids; D008074:Lipoproteins