NDLI: Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier).

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Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier).

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Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier).

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ronan, R. Kay, L. L. Brewer, H. B. Schaefer, E. J.
Abstract	Tangier disease is a familial disorder characterized by orange tonsils, cholesterol ester deposition in reticuloendothelial cells, abnormal chylomicron remnants, and a marked reduction in high density lipoproteins. Plasma concentrations of the apolipoproteins apo-A-I and apoA-II in patients with Tangier disease are approximately 1% and 7% of those in normal subjects, respectively. Previous studies have shown that the low plasma concentrations of apoA-I and apoA-II are due to increased fractional catabolism with a relatively normal apoA-I and apoA-II synthesis. Plasma apoA-I and apoA-II were isolated to electrophoretic homogeneity from delipidated plasma lipoproteins from a patient with Tangier disease. ApoA-I Tangier differed from apoA-I from control subjects in amino acid composition, electrophoretic mobility, apparent molecular weight on sodium dodecyl sulfate/polyacrylamide gel electrophoresis, and heterogeneity of isoforms on isoelectric focusing. ApoA-II Tangier, however, appeared to be identical to normal apoA-II in amino acid composition and in immunological as well as chemical properties. These results have been interpreted as indicating that apoA-I Tangier has a different covalent structure than does normal apoA-I, and apoA-II Tangier is identical to normal apoA-II. This structural change in apoA-I Tangier is associated with rapid catabolism of apoA-I Tangier-and apoA-II Tangier-containing plasma lipoproteins, and it leads to the deficiency in high density lipoproteins, abnormal chylomicron remnants, and the intracellular accumulation of cholesterol ester characteristic of Tangier disease.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	8
Volume Number	79
Language	English
Publisher	National Academy of Sciences
Publisher Date	1982-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Apolipoproteins Genetics Hypolipoproteinemias Blood Lipoproteins, HDL Tangier Disease Amino Acids Apolipoprotein A-I Apolipoprotein A-II Electrophoresis, Polyacrylamide Gel Immunodiffusion Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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