Skip to main content
PMC home page
The Journal of Clinical Investigation logoLink to The Journal of Clinical Investigation
. 1977 Nov;60(5):1025–1035. doi: 10.1172/JCI108853

Characterization of high density lipoproteins in patients heterozygous for Tangier disease.

G Assmann, O Simantke, H E Schaefer, E Smootz
PMCID: PMC372454  PMID: 198431

Abstract

In this study a large family group affectd with Tangier disease has been investigated. Besides two homozygous propositi, several heterozygous patients have been identified on the basis of quantitative measurements of high density lipoproteins and their constitutive polypeptides. By a variety of quantitative immunological methods, such as one-dimensional Laurell eletrophoresis, two-dimensional immunoelectrophoresis, and double-antibody radioimmunoassay, the total amount of apoprotein A-I and apoprotein A-I contained in the serum of heterozygous patients and the distribution of these A apoproteins among serum lipoproteins have been determined. The molar ration of apoprotein A-I and apoprotein A-II contained in high density lipoproteins of heterozygous patients did not significantly differ from that of control preparations, although the total mass of high density lipoproteins was reduced by approximately 50%. The elution profile of high density lipoproteins from agarose columns and their morphological appearance, as ascertained by electron microscopy, were similar to control preparations. In addition to the quantitative alterations of serum lipoproteins, lipid storage in histiocytes of the rectal mucosa obtained from heterozygous patients has been documented. It is concluded that patients heterozygous for Tangier disease have normal high density lipoproteins in circulation, the total mass of which is reduced by approximately 50%.

Full text

PDF

Images in this article

1032Image
on p.1032
1033Image
on p.1033

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alaupovic P., McConathy W. J., Curry M. D., Magnani H. N., Torsvik H., Berg K., Gjone E. Apolipoproteins and lipoprotein families in familial lecithin: cholesterol acyltransferase deficiency. Scand J Clin Lab Invest Suppl. 1974;137:83–87. [PubMed] [Google Scholar]
  2. Albers J. J., Wahl P. W., Cabana V. G., Hazzard W. R., Hoover J. J. Quantitation of apolipoprotein A-I of human plasma high density lipoprotein. Metabolism. 1976 Jun;25(6):633–644. doi: 10.1016/0026-0495(76)90060-3. [DOI] [PubMed] [Google Scholar]
  3. Assmann G., Herbert P. N., Fredrickson D. S., Forte T. Isolation and characterization of an abnormal high density lipoprotein in Tangier Diesase. J Clin Invest. 1977 Jul;60(1):242–252. doi: 10.1172/JCI108761. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Assmann G., Smootz E., Adler K., Capurso A., Oette K. The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. J Clin Invest. 1977 Mar;59(3):565–575. doi: 10.1172/JCI108672. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Berg K., Borresen A. L., Frick M. H., Dahlén G., Stene J. Letter: Serum-H.D.L. in a therosclerotic heart-disease. Lancet. 1976 Jul 3;2(7975):40–41. doi: 10.1016/s0140-6736(76)92991-3. [DOI] [PubMed] [Google Scholar]
  6. Eggstein M., Kreutz F. H. Eine neue Bestimmung der Neutralfette im Blutserum und Gewebe. I. Prinzip, Durchführung und Besprechung der Methode. Klin Wochenschr. 1966 Mar 1;44(5):262–267. doi: 10.1007/BF01747716. [DOI] [PubMed] [Google Scholar]
  7. FREDRICKSON D. S. THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). J Clin Invest. 1964 Feb;43:228–236. doi: 10.1172/JCI104907. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Friedberg S. J., Reynolds J. A. The molar ratio of the two major polypeptide components of human high density lipoprotein. J Biol Chem. 1976 Jul 10;251(13):4005–4009. [PubMed] [Google Scholar]
  9. HAVEL R. J., EDER H. A., BRAGDON J. H. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest. 1955 Sep;34(9):1345–1353. doi: 10.1172/JCI103182. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. HAVEL R. J. Early effects of fat ingestion on lipids and lipoproteins of serum in man. J Clin Invest. 1957 Jun;36(6 Pt 1):848–854. doi: 10.1172/JCI103491. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Hoffman H. N., Fredrickson D. S. Tangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults. Am J Med. 1965 Oct;39(4):582–593. doi: 10.1016/0002-9343(65)90081-1. [DOI] [PubMed] [Google Scholar]
  12. Jackson R. L., Morrisett J. D., Gotto A. M., Jr Lipoprotein structure and metabolism. Physiol Rev. 1976 Apr;56(2):259–316. doi: 10.1152/physrev.1976.56.2.259. [DOI] [PubMed] [Google Scholar]
  13. Kostner G. M. Letter: Enzymatic determination of cholesterol in high-density lipoprotein fractions prepared by polyanion precipitation. Clin Chem. 1976 May;22(5):695–695. [PubMed] [Google Scholar]
  14. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  15. Laurell C. B. Electroimmuno assay. Scand J Clin Lab Invest Suppl. 1972;124:21–37. doi: 10.3109/00365517209102748. [DOI] [PubMed] [Google Scholar]
  16. Lux S. E., John K. M., Brewer H. B., Jr Isolation and characterization of apoLp-Gln-II (apoA-II), a plasma high density apolipoprotein containing two identical polypeptide chains. J Biol Chem. 1972 Dec 10;247(23):7510–7518. [PubMed] [Google Scholar]
  17. Miller G. J., Miller N. E. Plasma-high-density-lipoprotein concentration and development of ischaemic heart-disease. Lancet. 1975 Jan 4;1(7897):16–19. doi: 10.1016/s0140-6736(75)92376-4. [DOI] [PubMed] [Google Scholar]
  18. Nikkila E. A. Letter: Serum high-density-lipoprotein and coronary heart-disease. Lancet. 1976 Aug 7;2(7980):320–320. doi: 10.1016/s0140-6736(76)90779-0. [DOI] [PubMed] [Google Scholar]
  19. Schaefer H. E., Fischer R. Peroxydaseaktivität als Ursache der stabilen Sudanophilie in Granulocyten. Klin Wochenschr. 1970 Dec 1;48(23):1424–1425. doi: 10.1007/BF01488819. [DOI] [PubMed] [Google Scholar]
  20. Stähler F., Munz E., Kattermann R. Enzymatische Bestimmung von Gesamt-Cholesterin im serum. Richtigkeit und Methodenvergleich. Dtsch Med Wochenschr. 1975 Apr 18;100(16):876-80, 885-7. doi: 10.1055/s-0028-1106309. [DOI] [PubMed] [Google Scholar]
  21. Weber K., Osborn M. The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis. J Biol Chem. 1969 Aug 25;244(16):4406–4412. [PubMed] [Google Scholar]

Articles from Journal of Clinical Investigation are provided here courtesy of American Society for Clinical Investigation

RESOURCES