The close genetic linkage between the loci for apolipoprotein CII (ApoC2) and myotonic dystrophy makes ApoC2 the closest fully validated marker for prediction of myotonic dystrophy. Application to genetic counselling and presymptomatic and prenatal prediction is reported in seven families with myotonic dystrophy, including one case in which the disorder was excluded prenatally. Only one of the ...

Our purpose was to compare HDL subpopulations, as determined by nondenaturing two-dimensional gel electrophoresis followed by immunoblotting for apolipoprotein A-I (apoA-I), apoA-II, apoA-IV, apoCs, and apoE in heterozygous, compound heterozygous, and homozygous subjects for cholesteryl ester transfer protein (CETP) deficiency and controls. Heterozygotes, compound heterozygotes, and homozygotes...

  Abstract   Background: Recently, small dense low density lipoprotein (sdLDL) has been   highlighted as a new risk factor for the coronary artery disease (CAD).Small dense   LDLs are believed to be atherogenic since these particles are taken up more easily by   arterial wall. They are readily oxidized and have reduced affinity for low density   lipoprotein (LDL) receptor and increased affinity...

OBJECTIVE To investigate involvement of specific apolipoproteins in the process of human oocyte maturation and age-related infertility as molecular constituents of follicular fluid. DESIGN Laboratory-based observational study. SETTING Basic science laboratory at a large academic institution. PATIENT(S) Follicular fluid obtained from healthy women aged 18 to 45 years undergoing in vitro fe...

An electroimmunodiffusion assay (EID) for the quantitative determination of the major apolipoproteins of the human high density lipoprotein fraction, apolipoproteins A-I and A-II, was compared with a solid phase radioimmunoassay (RIA), previously described by us. Data obtained by both methods largely depended on the pretreatment of the sera. Pretreatment consisted either of delipidation with an...

Micellar, discoidal complexes of human apolipoproteins A-I, A-II, C-I, C-II, C-III-1, and C-III-2 with egg phosphatidylcholine (egg-PC) and cholesterol were prepared by the cholate dialysis method. The complexes, isolated by gel filtration, had similar lipid and protein contents by weight, on the average: 1.77:0.083:1.0, egg-PC/cholesterol/apolipoprotein (w/w). The diameters of the discs, visua...

Apolipoprotein C-II (APOC2) is an obligatory activator of lipoprotein lipase. Human patients with APOC2 deficiency display severe hypertriglyceridemia while consuming a normal diet, often manifesting xanthomas, lipemia retinalis and pancreatitis. Hypertriglyceridemia is also an important risk factor for development of cardiovascular disease. Animal models to study hypertriglyceridemia are limit...

Our aim was to characterize HDL subspecies and fat-soluble vitamin levels in a kindred with familial apolipoprotein A-I (apoA-I) deficiency. Sequencing of the APOA1 gene revealed a nonsense mutation at codon -2, Q[-2]X, with two documented homozygotes, eight heterozygotes, and two normal subjects in the kindred. Homozygotes presented markedly decreased HDL cholesterol levels, undetectable plasm...