PMID: 6412234Oct 1, 1983Paper

Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-i) with high density lipoproteins

Proceedings of the National Academy of Sciences of the United States of America
G SchmitzR W Mahley

Abstract

Isoforms of apolipoprotein A-I (apo A-I) from subjects with Tangier disease were characterized, and their ability to recombine with normal high density lipoproteins (HDL) was studied. In contrast to normal serum, in which isoprotein 4 is the dominant species [79 +/- 1.8% (mean +/- SD)], the Tangier serum contained much less total apo A-I (approximately equal to 1% of that in normal serum), and isoproteins 2 and 4 were present in roughly equivalent amounts (35.3 +/- 2.5% and 42.7 +/- 3.6%, respectively). The Tangier isoprotein 2 was shown to correspond to pro-apo A-I, having a six-amino acid amino-terminal extension with the sequence: Arg-His-Phe-Trp-Gln-Gln-. The Tangier isoprotein 4 had the same amino-terminal sequence as normal circulating plasma apo A-I. Its association with normal HDL (70%) was similar to the association of normal apo A-I with HDL (80-90%) in recombination experiments. In marked contrast to this behavior, very little (less than 10%) of Tangier isoprotein 2 (pro-apo A-I) associated with HDL in recombination experiments. These results suggest that the underlying defect in Tangier disease may be a faulty conversion of pro-apo A-I to mature apo A-I, either due to a defect in the converting enzyme activity or to...Continue Reading

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Citations

Dec 1, 1989·Clinical Biochemistry·M I MacknessM Clerc
Sep 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·G SchmitzB Brennhausen
Dec 1, 1987·The Journal of Clinical Investigation·D BojanovskiH B Brewer
Apr 9, 2010·Stem Cell Reviews and Reports·Tomoko InoueKenzaburo Tani
Jun 14, 1985·Biochemical and Biophysical Research Communications·R B Weinberg, M S Spector
Nov 1, 1985·Acta Neurologica Scandinavica·V PietriniF Ferro Milone
Dec 1, 1991·Biological Chemistry Hoppe-Seyler·W HornebeckL Robert
Feb 1, 1985·Biological Chemistry Hoppe-Seyler·W Stoffel, B Niedel

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