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

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.

• Authors: L L Kay, R Ronan, E J Schaefer, H B Brewer Jr
• Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 79 Issue 8 Pg. 2485-9 (Apr 1982) ISSN: 0027-8424 [Print] United States
• PMID: 6806810 (Publication Type: Journal Article)

Chemical References

• Amino Acids
• Apolipoprotein A-I
• Apolipoprotein A-II
• Apolipoproteins
• Lipoproteins, HDL

Topics

• Amino Acids (analysis)
• Apolipoprotein A-I
• Apolipoprotein A-II
• Apolipoproteins (genetics)
• Electrophoresis, Polyacrylamide Gel
• Humans
• Hypolipoproteinemias (blood)
• Immunodiffusion
• Lipoproteins, HDL (genetics)
• Tangier Disease (blood)