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Apolipoprotein B Genetic Dificiences

  • Chapter
Human Apolipoprotein Mutants 2

Abstract

Abeta and hypobetalipoproteinemias designate an heterogeneous group of syndromes characterized by a marked decrease or absence of apoprotein B (apo-B)-containing lipoproteins in fasting and postprandial serum. Because of the essential role of apo-B containing lipoproteins in triglyceride and cholesterol transport from the liver and intestine into the circulation, defective synthesis and/or secretion of apo-B is commonly associated with liver steatosis and/or intestinal fat malabsorption and fat accumulation in the enterocytes. In addition, intestinal and plasma transport of fat soluble vitamins (A, E, D, K) may be impaired which can lead to retinal degeneration and demyelinizing lesions of the central and peripheral nervous system.

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References

  1. Herbert, P.N., Assmann, G., Gotto, A.M., Fredrickson, D.S. Familial lipoprotein deficiency abetalipoproteinemia, hypobetalipoproteinemia, and Tangier disease. In, the Metabolic Basis of Inherited Diseases. J. B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson, J.L. Goldstein and M.S. Brown (editors). Mc Graw-Hill Inc. New York, 5th edition (1983), pp 589–621.

    Google Scholar 

  2. Kayden, H.J. and M.G. Traber. Clinical,nutritional and biochemical consequences of apolipoprotein B deficiency. In, Lipoprotein Deficiency Syndromes. A. Angel and J. Fröhlich (editors). Adv. in Exper. Med. 201: 67–81, 1986, Plenum Press, New York.

    Google Scholar 

  3. Mars, H., Lewis L.A., Robertson, A.L., Butkus, A. and G.M. Williams. Familial hypobetalipoproteinemia a genetic disorder of lipid metabolism with nervous system involvement. Am. J. Med. 46: 886–900, 1969.

    Article  PubMed  CAS  Google Scholar 

  4. Cottrill, C., Glueck, C.J., Leuba, V., Millett, F., Puppione, D. and W. V. Brown. Familial homozygous hypobetalipoproteinemia. Metabolism, 23: 779–791, 1974.

    Article  PubMed  CAS  Google Scholar 

  5. Polonovski,C., Navarro J., Fontaine, J.L.,. de Guyon, F., Saudubray, J.M. and L. Cathelineau. Maladie d’Anderson. Ann. Pediatr. (Paris) 17: 342–354, 1970.

    CAS  Google Scholar 

  6. Malloy, M.J., Kane, J.P., Hardman, A., Hamilton, R.N., and K.B. Dalai. Normotriglyceridemic abetalipoproteinemia. Absence of the B100 apolipoprotein. J. Clin. Invest. 67: 1441–1450, 1981.

    Article  PubMed  CAS  Google Scholar 

  7. Takashima, Y., Kodama, T., Uda, H., Kawamura, M., Aburtani, H., Itakura, H., Akanuma, Y., Takaku, F. and M. Kawade. Normotriglyceridemic apobetalipoproteinemia in infancy: an isolated apolipoprotein B100 defi¬ciency. Pediatrics, 75: 541–546, 1985.

    PubMed  CAS  Google Scholar 

  8. Herbert, P.N., Hyams, J.S., Bernier, O.N., Berman, M.M., Saritelli, A.L., Lynch K.M., Nichol A.V. and T.M. Forte. Apolipoprotein B deficiency Intestinal steatosis despite apolipoprotein B48 synthesis. J. Clin. Invest 76: 403–412, 1985.

    Article  PubMed  CAS  Google Scholar 

  9. Bouma, M.E., Beucler, I., Aggerbeck, L.P., Infante, R., and J. Schmitz. Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells, immunoenzymatic and biochemical characterization of seven cases of Anderson’s disease. J. Clin. Invest. 78: 398–410, 1986.

    Article  PubMed  CAS  Google Scholar 

  10. Roy, C.C., Levy, E., Green, P.H.R., Sniderman, A., Retarte, J., Buts, J.P., Orquin, J., Brochu, P., Weber, A.M., Morin, C., Mareil, Y. and R.J. Deckelbaum. Malabsorption, hypocholesterolemia and fat-filled enterocytes increased intestinal apoprotein B. Chylomicron retention disease. Gastroenterology, 92: 390–399, 1987.

    PubMed  CAS  Google Scholar 

  11. Steinberg, D., Grundy,S.M., Mok, H.Y.I., Turner, J.D., Weinstein, D.B., Brown V.W. and J.J. Albers. Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia. J. Clin. Invest. 64: 292–301, 1979.

    Article  PubMed  CAS  Google Scholar 

  12. Vega, G.L., Von Bergmann, K., Grundy,S.L., Beltz, W., Jahn, C., and C. East. Increased catabolism of VLDL-apolipoprotein B and synthesis of bile acids in a case of hypobetalipoproteinemia. Metabolism, 36: 262–269, 1987.

    Article  PubMed  CAS  Google Scholar 

  13. 13.Illingworth, D.R., Connor, W.E., and R.G. Miller. Abetalipoproteinemia: report of two cases and review of therapy. Arch. Neurol. 37: 659–662, 1980.

    Article  PubMed  CAS  Google Scholar 

  14. Brown, M.S., Kovanen, P.T. and J.L. Goldstein. Regulation of plasma cholesterol by lipoprotein receptors. Science, 212: 628–635, 1981.

    Article  PubMed  CAS  Google Scholar 

  15. Brown, M.S., Branan, P.G., Bohmfalk, M.A., Brunschede, G.Y., Dana, S.E., Helgelson, J. and J.L. Goldstein. Use of mutant fibroblasts in the analysis of regulation of cholesterol metabolism in human cells. J. Cell. Physiol. 85: 425–436, 1975.

    Article  PubMed  CAS  Google Scholar 

  16. Ho, Y.K., Faust, J.R., Bilheimer, D.W., Brown, M.S. and J.L. Goldstein Regulation of cholesterol synthesis by low density lipoproteins in isolated human lymphocytes. J. Exp. Med. 145: 1531–1548, 1977.

    Article  PubMed  CAS  Google Scholar 

  17. Reichl, D., Myant, N.B. and S.K. Lloyd. Surface binding and catabolism of low density lipoprotein by circulating lymphocytes from patients with abetalipoproteinemia with observations on sterol synthesis in lymphocytes from one patient. Biochem. BIophys. Acta. 530: 124–131, 1978.

    Article  PubMed  CAS  Google Scholar 

  18. Illingworth, D.R., Connors, W.E., Buist, W.R., Jhavery,M.B., Lin, D.S. and P.P. McMurry. Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. Metabolism, 28: 1152–1160, 1979.

    Article  PubMed  CAS  Google Scholar 

  19. Illingworth, D.R., Connors, W.E. and J. Diliberti. Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients. Gastroenterology, 78: 68–75, 1980.

    PubMed  CAS  Google Scholar 

  20. Myant, N.B., Reichl, D. and J.K. Llyod. Sterol balance in a patient with abetalipoproteinemia. Atherosclerosis, 29: 509–512, 1978.

    Article  PubMed  CAS  Google Scholar 

  21. Blum, C.B., Deckelbaum, R.J., Witte, L.D., Tall, A.R. and J. Cornicelli. Role of apoliprotein E-containing lipoproteins in abetalipoproteinemia. J. Clin. Invest. 70: 1157–1169, 1982.

    Article  PubMed  CAS  Google Scholar 

  22. Illingworth, D.R., Alam, N.A., Sandberg, E.E., Hagemenas, F.L. and D.L. Layman. Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. Proc. Nat. Acad. Sci. USA, 80: 3475–3479, 1983.

    Article  PubMed  CAS  Google Scholar 

  23. Kayden, M.J. Abetalipoproteinemia: abnormalities of serum lipoproteins. In, Protides of biological Fluids, Peeters H. (editor). Oxford, Pergamon Press, (1978), pp 271–276.

    Google Scholar 

  24. Illingworth, D.R., Corbin, D.R., Kemp, E.D. and E.J. Keenan. Hormones changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. Proc. Nat. Acad. Sci. USA, 79: 6685–6689, 1982.

    Article  PubMed  CAS  Google Scholar 

  25. Illingworth, D.R., Kenny, T.A. and E.S. Orwoll. Corticosteroid production in abetalipoproteinemia: evidence for an impaired response to ACTH. J. Lab. Clin. Med. 100: 115–126, 1982.

    PubMed  CAS  Google Scholar 

  26. Illingworth, D.R., Kenny, T.A. and E.S. Orwoll. Adrenal function in heterozygous and homozygous hypobetalipoproteinemia. J. Clin. Endocrinol. Metab. 54: 27–33, 1982.

    Article  PubMed  CAS  Google Scholar 

  27. Gwynne, J.T. and J.F. Strauss. The role of lipoproteins in steroidogenesis and cholesterol metabolism in steroidogenic glands. Endocr. Rev. 3: 299–329; 1982.

    Article  PubMed  CAS  Google Scholar 

  28. Levy, E., Marcel, Y., Deckelbaum, R., Milne, R., Lepage, G., Seidman, E., Bendayan, M. and C. Roy. Intestinal apo-B synthesis,lipids and lipoproteins in chylomicron retention disease. J. Lipid. Res. 28: 1263–1274, 1987.

    PubMed  CAS  Google Scholar 

  29. Young, S.G., Bertics, S.J., Curtiss, L.K. and J. Witztum. Characterization of an abnormal species of apolipoprotein B, apolipoprotein B37, associated with familial hypobetalipoproteinemia. J. Clin. Invest. 79: 1831–1841, 1987.

    Article  PubMed  CAS  Google Scholar 

  30. Glickman, R.M., Green, P.H.R. and R. Lees. Immunofluorescence studies of apolipoprotein B in normal and abetalipoproteinemia intestinal mucosa. Gastroenterology, 76: 288–292, 1979.

    PubMed  CAS  Google Scholar 

  31. Levy, E., Marcel, Y.L., Milne, R.W., Grey, V.G. and C. Roy. Absence of intestinal synthesis of apolipoproein B48 in two cases of abetalipoproteinemia. Gastroenterology, 93: 1119–, 1987.

    PubMed  CAS  Google Scholar 

  32. Lackner, K.J., Monge, J.C., Gregg, R.E., Hoeg, J.L., Triche, T.J., Law, S.W. and H.B. Brewer. Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. J. Clin. Invest. 78: 1707–1712, 1986.

    Article  PubMed  CAS  Google Scholar 

  33. Dullaart, R.P.F., Speelberg, B., Schurman, H.J. Milne, R.W., Havekes, L., Marcel, Y.L., Geuze, H.J., Hulshof, M.M. and B.W. Erkelens. Epitopes of apoliprotein B100 and B48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia. J. Clin. Invest. 78: 1397–1401, 1986.

    Article  PubMed  CAS  Google Scholar 

  34. Li, W.H., Tanimura, M., Luo, C.C., Datta, S. and L. Chan. The apolipoprotein multigene family: biosynthesis, structure-function relationships, and evolution. J. Lipid. Res. 29: 245–265, 1988.

    PubMed  CAS  Google Scholar 

  35. Breslow, J.L. Apolipoprotein genetic variation and human disease. Physiol. Rev. 68: 85–124, 1988.

    PubMed  CAS  Google Scholar 

  36. Powell, L.M., Wallis, S.C., Pease, R.J., Edwards, H.Y., Knott, T.J. and J. Scott. A novel form of tissue specific RNA processing produces apolipoprotein B48 in intestine. Cell, 50: 831–840, 1987.

    Article  PubMed  CAS  Google Scholar 

  37. Chen, S.H., Habib, G., Yang, C.Y., Gu, Z.W., Lee, B.R., Weng, S.A., Silberman, S.R., Cai, S.J., Deslypere, J.P., Rosseneu, M., Gotto, A.M. and L. Chan. Apolipoprotein B48 is the product of a messenger RNA with an organ specific inframe stop codon. Science, 238: 363–366, 1987.

    Article  PubMed  CAS  Google Scholar 

  38. Higuchi, K., Hospattankar, A.V., Law, S.W., Meglin, G.N., Cortright, J. and H.B. Brewer. Human apolipoprotein B (apo-B) mRNA: identification of two distinct apo-B mRNAs, an mRNA with the apo-B100 sequence and an apo-B mRNA containing a premature in frame stop codon, in both liver intestine. Proc. Nat. Acad. Sci. USA, 85: 1772–1776, 1988.

    Article  PubMed  CAS  Google Scholar 

  39. Ross, R.S., Gregg, R.E., Law, S.W., Monge, J.C., Grant, S.M., Higuchi, K., Triche, T.J., Jefferson, J. and H.B. Brewer. Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproteinemia at the molecular level. J. Clin. Invest. 81: 590–595, 1988.

    Article  PubMed  CAS  Google Scholar 

  40. Talmud, P., Lloyd, J.K., Muller, D.P.R., Collins, D.R., Scott, J., and S. Humphries. Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia. J. Clin. Invest. 82: 1803–1806, 1988.

    Article  PubMed  CAS  Google Scholar 

  41. Leppert, M., Breslow, J.L., Wu, L.., Hasstedt, S., O’Connell, P., Lathrop, M., Williams, R.R., White, R. and J.M. Lalouel. Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred. J. Clin. Invest. 82: 847–851, 1988.

    Article  PubMed  CAS  Google Scholar 

  42. Young, S.G., Northey, S.T. and B.J. MacCarthy. Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene. Science, 241: 591–593, 1988.

    Article  PubMed  CAS  Google Scholar 

  43. Collins, D.R., Knott, T.J., Pease, R.J., Powell, L.M., Wallis, S.C., Robertson, S., Pullinger, C.R., Milne, R.W., Marcel, Y.L., Humphries,S. E. Talmud, P.J., Lloyd, J.K., Miller, N.E., Muller, D. and J. Scott. Truncated variants of apolipoprotein B cause hypobetalipoproteinemia. Nucleic Acid Res. 16: 8361–8375, 1988.

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. I.N.S.E.R.M. Hospital Saint Antoine, 75012, Paris, France

    R. Infante

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  1. R. Infante
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Editor information

Editors and Affiliations

  1. Institute of Pharmacological Sciences, University of Milan, Milan, Italy

    C. R. Sirtori  & G. Franceschini  & 

  2. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA

    H. B. Brewer Jr.

  3. University of Münster, Münster, Federal Republic of Germany

    G. Assmann

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© 1989 Plenum Press, New York

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Infante, R. (1989). Apolipoprotein B Genetic Dificiences. In: Sirtori, C.R., Franceschini, G., Brewer, H.B., Assmann, G. (eds) Human Apolipoprotein Mutants 2. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9549-6_13

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  • DOI: https://doi.org/10.1007/978-1-4615-9549-6_13

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4615-9551-9

  • Online ISBN: 978-1-4615-9549-6

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