Familial Hypocholesterolemia and HDL Deficiency

  • Marie-France Dumon
  • Monique Freneix-Clerc
  • Marie-José Maviel
  • Michel Clerc
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 285)


Familial hypocholesterolemia and HDL deficiency are often associa ted in a heterogeneous family of hereditary diseases.


Lipid Transfer Protein Human Apolipoprotein Tangier Disease Heparin Binding Site Heparin Affinity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    C. Vergani and G. Bettale, Familial hypo-alpha-lipoproteinemia, Clin. Chim. Acta, 114, 45–52 (1981).PubMedCrossRefGoogle Scholar
  2. 2.
    A. Gustafson, W.Nc. Conathy, P. Alaupovic, M.D. Curry and B. Persson, Identification of apoprotein families in a variant of human apolipoprotein A deficiency, Scand. J. Clin. Lab. Invest., 39, 377– 383 (1979).PubMedCrossRefGoogle Scholar
  3. 3.
    R.A. Norum, J.B. Sakier, S. Goldstein, A. Angel, R.B. Goldberg, W.D. Block, D.K. Noffee, P.J. Dolphin, J. Fdelglass, D.D. Borograd and P. Alaupovic, Familial deficiency of apolipoproteins A-I and C-III and precocius coronary-artery disease, N. Engl. J. Med., 306, 1513–1519 (1982).PubMedCrossRefGoogle Scholar
  4. 4.
    C.S. Shoulders, M.J. Ball and F.E. Beralle, Variation in the apo A-I, C-III, A-IV gene complex : its association with hypertrigly ceridemia, Atherosclerosis, 80, 111–118 (1989).PubMedCrossRefGoogle Scholar
  5. 5.
    E.J. Schalffer, W.H. Heaton, M.G. Wetzel and H.B. Brewer, Plasma apolipoprotein A-I absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease, Arteriosclerosis, 2, 16–26 (1982).CrossRefGoogle Scholar
  6. 6.
    A.V. Eckardstein, H. Funke, A. Heuke, K. Atland, A. Benninghoven and G. Assmann, Apolipoprotein A-I variants, J. Clin. Invest., 84, 1722–1730, (1989).CrossRefGoogle Scholar
  7. 7.
    M.F. Dumon, M. Clerc and M. Clerc, Apolipoprotein A-I deficiency in Tangier disease, in : Eicosanoids, apolipoproteins, lipoprotein particles, and atherosclerosis, C.L. Malmendier and P. Alaupovic (Eds), Plenum Press, New-York, 67–73 (1988).CrossRefGoogle Scholar
  8. 8.
    L.A. Carlson and B. Philipson, Fish-Eye disease a new familial condition with massive corneal opacities and dyslipoproteinemia, Lancet, II, 921–923 (1979).CrossRefGoogle Scholar
  9. 9.
    P.N. Herbert, G. Assamnn, A.M. Gotto and D.S. Fredrickson Familial lipoprotein deficiency, in : Metabolic Basis of inherited disease, M.S. Brown (Ed), Mac Graw Hill, New-York, 589–621 (1983).Google Scholar
  10. 10.
    K.R. Norum and F. Djone, Familial plasma lecithin : cholesterol acyltransferase deficiency. Biochemical study of a new inborn error of metabolism, Scand. J. Clin. Lab. Invest., 20, 231–238 (1967).CrossRefGoogle Scholar
  11. 11.
    S.K. Karathanasis, R.A. Norum, V.I. Zannis and J. Breslow, An inherited polymorphism in the human apolipoprotein A-I gene locus related to development of atherosclerosis, Nature, 301, 718–720 (1983).PubMedCrossRefGoogle Scholar
  12. 12.
    A. Rees, J. Stocks, C. Schoulders, L.A. Carlson, F.E. Baralle and D.J. Galton, Restriction enzyme analysis of the apolipoprotein A-I gene in Fish-eye disease and Tangier disease, Acta Med. Scand., 215, 235–237 (1984).PubMedCrossRefGoogle Scholar
  13. 13.
    S.K. Karathanasis, Apolipoprotein multigen family : tandem organi zation of human apolipoprotein A-I, C-III and A-IV genes, Proc. Natl. Acad. Sci. USA, 82, 6374–6378 (1985).PubMedCrossRefGoogle Scholar
  14. 14.
    H.N. Ginsberg, N.A. Le, I.J. Goldberg, J.C. Gibson, A. Rubinstein, P.W. Iverson, R. Norum and V. Brown, Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins C-III and A-I. J. Clin. Invest., 78, 1287–1295 (1986).PubMedCrossRefGoogle Scholar
  15. 15.
    A.M. Kessling, J. Rajput-Williams, D. Baiton, J. Scott, N.E. Miller, I. Baker and S.E. Humphries, DNA polymorphisms of the apoliprotein A-II and A-I, C-III, A-IV genes : A study in men selected for differences in high density -lipoprotein cholesterol concentration, Am. J. Hum. Genet., 42, 458–467 (1988).PubMedGoogle Scholar
  16. 16.
    J.L. Breslow, Apolipoprotein genetic variation and human disease, Physiol. Rev., 68, 85–132 (1988).PubMedGoogle Scholar
  17. 17.
    G. Schmitz, G. Assmann, H. Robenek and B. Brennhausen, Tangier disease : A disorder of intracellular membrane traffic, Proc. Natl. Acad. Sci. USA, 82, 6305–6309 (1985).PubMedCrossRefGoogle Scholar
  18. 18.
    C.S. Wang, P. Alaupovic, R.E. Gregg and H.B. Brewer, Studies on the mechanism of hypertriglyceridemia in Tangier disease. Determination of plasma lipolytic activies, Kl values and apolipoprotein composition of the major lipoprotein density classes, Biochim. Biophvs. Acta, 920, 9–19 (1987).Google Scholar
  19. 19.
    M.F. Dumon, R.Q. Dang, R. Salvayre, M. Clerc and L. Douste-Blazy, Modified lipid protein interactions in Tangier LDL2 demonstrated by fluorescence quenching, Chem. Phys. Lipids, 49, 153–160 (1988).PubMedCrossRefGoogle Scholar
  20. 20.
    M.F. Dumon, M. Freneix-Clerc, E. Peuchant and M. Clerc, Apos A-I A-II et B dans deux situations d’hypocholesterolemie héréditaire. Symp. Behring, Paris, 20 oct., C.R. p. 313 (1989).Google Scholar
  21. 21.
    M.F. Dumon, L. Dubourg, T. Jasawant, Y. Auche et M. Clerc, Bilan biochimique et bioclinique d’un nouveau cas de maladie de Tangier, Ann. Biol. Clin., 4, 681 (1985).Google Scholar
  22. 22.
    M.F. Dumon, S. Visvikis, T. Manabe and M. Clerc, Immunochemical study of the plasma low and high density lipoproteins in Tangier disease, FEBS Letters, 201, 163–167 (1986).PubMedCrossRefGoogle Scholar
  23. 23.
    S. Visvikis, M.F. Dumon, J. Steinmetz, T. Manabe, M.M. Galteau, M. Clerc and G. Siest, Plasma apolipoproteins in Tangier disease : a study by two dimensional electrophoresis, Clin. Chem., 33, 120– 122 (1987).PubMedGoogle Scholar
  24. 24.
    M.M. Mackness, E. Peuchant, M.F. Dumon, C.H. Walker and M. CLerc, Absence of AEsterase activity in the serum of a patient with Tangier disease, Clin. Biochem., 22, 475–478 (1989).PubMedCrossRefGoogle Scholar
  25. 25.
    M.F. Dumon and M. Clerc, Combination of affinity chromatography and analytical polyacrylamide gel electrophoresis for rapid measurement of human HDL apolipoproteins, Anal. Biochem., 41, 25–32 (1984).CrossRefGoogle Scholar
  26. 26.
    L.P. Cawley, Immunofixation electrophoretic technique applied to identification of proteins in serum and cerebrospinal fenid, Clin. Chem., 22, 1262–1268 (1976).PubMedGoogle Scholar
  27. 27.
    L. Holmquist and L.A. Carlson, Alpha Lecithin : cholesterol acyltransferase deficiency-lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein LCAT in Fish-Eye disease, Acta. Med. Scand., 222, 23–26 (1987).PubMedCrossRefGoogle Scholar
  28. 28.
    K.H. Weisgraber and S.C. Rall, Human apolipoprotein B-100 heparin binding sites, Journ. Biol. Chem., 262, 11007–11103 (1987).Google Scholar
  29. 29.
    Y.T. Pan, A.W. Kruski and A.D. Elbein, Binding of [3H] heparin to human plasma low density lipoprotein, Arch. Biochem. Biophys., 189, 231–240 (1978).PubMedCrossRefGoogle Scholar
  30. 30.
    Z.H. Beg, J.A. Stonik, J.M. Hoeg, S.T. Demosky, T. Fairwell and H.B. Brewer, Human apolipoprotein A-1. Post-translational modification by covalent phosphorylation, Journ. Biol. Chem., 264, 6913–6921 (1989).Google Scholar
  31. 31.
    A. Ress, J. Stocks, C. Shoulders, L.A. Carlson, F.E. Baralle and D.J. Galton, Restriction enzyme analysis of apolipoprotein A-I gene in Fish-Eye disease and Tangier disease, Acta. Med. Scand., 215, 235–237 (1984).CrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1990

Authors and Affiliations

  • Marie-France Dumon
    • 1
  • Monique Freneix-Clerc
    • 1
  • Marie-José Maviel
    • 1
  • Michel Clerc
    • 1
  1. 1.Laboratoire de Biochimie Médicale AUniversité de Bordeaux IIBordeaux-CedexFrance

Personalised recommendations