BIOMAT Database Logo BIOMAT Database Logo

Identification of an apoC-II variant (apoC-IIBethesda) in a kindred with apoC-II deficiency and type I hyperlipoproteinemia. 1988

D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
National Heart, Lung, and Blood Institute, Molecular Disease Branch, Bethesda, MD 20892.

Apolipoprotein (apo) C-II deficiency is characterized by elevated plasma triglycerides, chylomicrons, and very low density lipoproteins, as well as reduced levels of low density and high density lipoproteins. A subject with apoC-II deficiency has been identified with an apoC-II plasma level of less than 0.05 mg/dl. The plasma apoC-II in the proband was immunochemically similar to apoC-II in normal subjects when analyzed by Ouchterlony immunodiffusion, however the apoC-II had an apparently lower molecular weight and higher pI when analyzed by two-dimensional gel electrophoresis. This apoC-II variant, designated apoC-IIBethesda, was not affected by neuraminidase treatment or reduction. Two-dimensional gel electrophoresis of the plasma of the mother of the proband revealed both normal apoC-II and apoC-IIBethesda, whereas analysis of the father and two siblings revealed apoC-II of normal electrophoretic mobility. These results were interpreted as indicating that the proband was a compound heterozygote with one allele for apoC-IIBethesda inherited from the mother and an allele coding for an abnormality which results in the virtual or complete absence of plasma apoC-II from the father. This proband represents the first example of a compound heterozygote for an apolipoprotein defect associated with a dyslipoproteinemia.

UI MeSH Term Description Entries
D006951 Hyperlipoproteinemias Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation. Hyperlipoproteinemia
D008072 Hyperlipoproteinemia Type I An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing. Apolipoprotein C-II Deficiency,Hyperchylomicronemia, Familial,Lipoprotein Lipase Deficiency, Familial,Burger-Grutz Syndrome,C-II Anapolipoproteinemia,Chylomicronemia, Familial,Familial Fat-Induced Hypertriglyceridemia,Familial Hyperchylomicronemia,Familial Hyperlipoproteinemia Type 1,Familial LPL Deficiency,Familial Lipoprotein Lipase Deficiency,Hyperlipemia, Essential Familial,Hyperlipemia, Idiopathic, Burger-Grutz Type,Hyperlipoproteinemia Type Ia,Hyperlipoproteinemia Type Ib,Hyperlipoproteinemia, Type I,Hyperlipoproteinemia, Type Ia,Hyperlipoproteinemia, Type Ib,LIPD Deficiency,Lipase D Deficiency,Lipoprotein Lipase Deficiency,Anapolipoproteinemia, C-II,Anapolipoproteinemias, C-II,Apolipoprotein C II Deficiency,Apolipoprotein C-II Deficiencies,Burger Grutz Syndrome,Burger-Grutz Syndromes,C-II Anapolipoproteinemias,Chylomicronemias, Familial,Deficiencies, Apolipoprotein C-II,Deficiencies, Familial LPL,Deficiencies, LIPD,Deficiencies, Lipase D,Deficiencies, Lipoprotein Lipase,Deficiency, Apolipoprotein C-II,Deficiency, Familial LPL,Deficiency, LIPD,Deficiency, Lipase D,Deficiency, Lipoprotein Lipase,Essential Familial Hyperlipemia,Essential Familial Hyperlipemias,Familial Chylomicronemia,Familial Chylomicronemias,Familial Fat Induced Hypertriglyceridemia,Familial Fat-Induced Hypertriglyceridemias,Familial Hyperchylomicronemias,Familial Hyperlipemia, Essential,Familial Hyperlipemias, Essential,Familial LPL Deficiencies,Fat-Induced Hypertriglyceridemia, Familial,Fat-Induced Hypertriglyceridemias, Familial,Hyperchylomicronemias, Familial,Hyperlipemias, Essential Familial,Hyperlipoproteinemia Type Ias,Hyperlipoproteinemia Type Ibs,Hyperlipoproteinemia Type Is,Hyperlipoproteinemias, Type I,Hyperlipoproteinemias, Type Ia,Hyperlipoproteinemias, Type Ib,Hypertriglyceridemia, Familial Fat-Induced,Hypertriglyceridemias, Familial Fat-Induced,LIPD Deficiencies,LPL Deficiencies, Familial,LPL Deficiency, Familial,Lipase D Deficiencies,Lipase Deficiencies, Lipoprotein,Lipoprotein Lipase Deficiencies,Syndrome, Burger-Grutz,Syndromes, Burger-Grutz,Type I Hyperlipoproteinemia,Type I Hyperlipoproteinemias,Type Ia Hyperlipoproteinemia,Type Ia Hyperlipoproteinemias,Type Ib Hyperlipoproteinemia,Type Ib Hyperlipoproteinemias
D008075 Lipoproteins, HDL A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases. High Density Lipoprotein,High-Density Lipoprotein,High-Density Lipoproteins,alpha-Lipoprotein,alpha-Lipoproteins,Heavy Lipoproteins,alpha-1 Lipoprotein,Density Lipoprotein, High,HDL Lipoproteins,High Density Lipoproteins,Lipoprotein, High Density,Lipoprotein, High-Density,Lipoproteins, Heavy,Lipoproteins, High-Density,alpha Lipoprotein,alpha Lipoproteins
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001056 Apolipoproteins C A group of apolipoproteins that can readily exchange among the various classes of lipoproteins (HDL; VLDL; CHYLOMICRONS). After lipolysis of TRIGLYCERIDES on VLDL and chylomicrons, Apo-C proteins are normally transferred to HDL. The subtypes can modulate remnant binding to receptors, LECITHIN CHOLESTEROL ACYLTRANSFERASE, or LIPOPROTEIN LIPASE. Apo-C,Apo C,ApoC,Apoprotein (C),Apoproteins C
D053304 Apolipoprotein C-II A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS. It contains a cofactor for LIPOPROTEIN LIPASE and activates several triacylglycerol lipases. The association of Apo C-II with plasma CHYLOMICRONS; VLDL, and HIGH-DENSITY LIPOPROTEINS is reversible and changes rapidly as a function of triglyceride metabolism. Clinically, Apo C-II deficiency is similar to lipoprotein lipase deficiency (HYPERLIPOPROTEINEMIA TYPE I) and is therefore called hyperlipoproteinemia type IB. Apo C-II,ApoC2,Apolipoprotein C-2,Apolipoprotein CII,Apoprotein C-II,Apo C II,Apolipoprotein C 2,Apolipoprotein C II,Apoprotein C II

Related Publications

D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
Apolipoprotein C-II deficiency: identification of a structural variant ApoC-II Padova.
July 1988, Biochemical and biophysical research communications,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
The apolipoprotein C-II variant apoC-IILys19-->Thr is not associated with dyslipidemia in an affected kindred.
June 1994, Clinical genetics,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia.
March 1974, Circulation,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency.
September 1979, Atherosclerosis,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
An initiation codon mutation in the apoC-II gene (apoC-II Paris) of a patient with a deficiency of apolipoprotein C-II.
December 1989, The Journal of biological chemistry,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
[Familial IgM deficiency and type II hyperlipoproteinemia].
November 1977, Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
apoC-II deficiency: a new mutant.
June 1978, The New England journal of medicine,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II.
December 1988, The Journal of biological chemistry,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.
September 1987, American journal of clinical pathology,
D L Sprecher, and L Taam, and R E Gregg, and S S Fojo, and D M Wilson, and M L Kashyap, and H B Brewer
Proceedings: A variant of type II a hyperlipoproteinemia in a large Jewish family.
November 1975, Israel journal of medical sciences,
Copied contents to your clipboard!