Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 plasma apoA-1, tuboeruptive and planar xanthomas, mild corneal arcus and opacification, and severe premature coronary artery disease. In both homozygotes, analysis of HDL particles by two-dimensional gel electrophoresis revealed undetectable apoA-I, decreased amounts of small alpha-3 migrating apoA-II particles, and only modestly decreased normal amounts of slow alpha migrating apoA-IV- and apoE-containing HDL, while in the eight heterozygotes, there was loss of large alpha-1 HDL particles. There were no significant decreases in plasma fat-soluble vitamin levels noted in either homozygotes or heterozygotes compared with normal control subjects. Our data indicate that isolated apoA-I deficiency results in marked HDL deficiency with very low apoA-II alpha-3 HDL particles, modest reductions in the separate and distinct plasma apoA-IV and apoE HDL particles, tuboeruptive xanthomas, premature coronary atherosclerosis, and no evidence of fat malabsorption.
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PMID:Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency. 1799 56

The cells' malabsorption of three classes of lipoproteins--chylomicrons and lipoproteins of low and very low density,--form under electrophoresis six phenotypes of hyperlipoproteinemia. In phylogenesis, cells absorb lipoproteins in a consecutive way by apoE/B-48, apoB-100 and apoE/B-100 receptor endocytosis. The domain-ligand in lipoproteins of very low density is forming when apoB-100 takes active conformation "deformed bilayer apoprotein-lipid" in association with domain apoE apoE/B-100 ligand is formed. Another active conformation apoB-100 in domain is globule with lipids in "pocket" forming apoB-100 ligand In blood 9 subclasses are formed: pre-ligand and post-ligand chylomicrons, lipoproteins with low density and lipoproteins with very low density. The ligand lipoproteins bind receptors of membrane and absorb cells. Both pre-chylomicrons, pre-lipoproteins with low density, pre-lipoproteins with very low density and post-chylomicrons, post-lipoproteins with low density, post-lipoproteins with very low density remain in blood. The sub-classes of lipoproteins form at electrophoregram 6 phenotypes of hyperlipoproteinemia: phenotype I-pre-chylomicrons + pre-lipoproteins with very low density; phenotype IIa--post-lipoproteins with low density; phenotype IIb--pre-lipoproteins with very low density; phenotype III--post-chylomicrons + pre-lipoproteins with very low density; phenotype IV--pre-lipoproteins with very low density; phenotype V--pre-chylomicrons + post-chylomicrons + pre-lipoproteins with very low density + post-lipoproteins with very low density. The formation under electrophoresis of primary phenotypes and secondary types of hyperlipoproteinemia occurs according single algorithm. In aphysiological sense, the major mass of palmitic and oleic lipoproteins with very low density absorb cells without transformation into lipoproteins with low density. Only linoleic and linolenic lipoproteins with very low density which are formed after binding of apoB-100 of triglycerides the same name and which are not much in blood acquire density of lipoproteins with low density physiologically. Under high content of triglycerides in blood main mass of lipoproteins with low density consists of aphysiologic palmitic lipoproteins with very low density with hydrated density lipoproteins with low density, the cause of hyperlipoproteinemia of phenotype III is genotype e21e2 apoE; hyperlipoproteinemia of phenotype V--genotype e4/e4 and probably toxic inhibition of activity (synthesis) phylogenetically late stearil-KoA-desaturase-2.
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PMID:[The conformation of apoB-100 in phylogenetically and functionally different lipoproteins of low and very low density: algorithm of formation of phenotypes of hyper lipoproteinimia (a lecture)]. 2506 20


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