Skip to main content

Genetic Disorders of Lipoprotein Metabolism

  • Chapter

Part of the book series: Contemporary Cardiology ((CONCARD))

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   259.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD   329.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Santamarina-Fojo, S. 1992. Genetic dyslipoproteinemias: role of lipoprotein lipase and apolipoprotein C-II. Curr Opin Lipidol 3:186–195.

    Article  CAS  Google Scholar 

  2. Mahley, R.W., Huang, Y., and Rall, S.C.J. 1999. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia): questions, quandaries, and paradoxes. J Lipid Res 40:1933–1949.

    PubMed  CAS  Google Scholar 

  3. Grundy, S.M., Chait, A., and Brunzell, J.D. 1987. Familial combined hyperlipidemia workshop. Arteriosclerosis 7:203–207.

    Google Scholar 

  4. Shoulders, C.C., Jones, E.L., and Naoumova, R.P. 2004. Genetics of familial combined hyperlipidemia and risk of coronary heart disease. Hum Mol Genet 13 Spec. No. 1:R149–R160.

    Article  CAS  Google Scholar 

  5. Rader, D.J., Cohen, J., and Hobbs, H.H. 2003. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 111:1795–1803.

    Article  PubMed  CAS  Google Scholar 

  6. Sachais, B.S., Katz, J., Ross, J., and Rader, D.J. 2005. Long-term effects of LDL apheresis in patients with severe hypercholesterolemia. J Clin Apher 20:252–255.

    Article  PubMed  Google Scholar 

  7. Tybjaerg-Hansen, A., and Humphries, S.E. 1992. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis 96:91–107.

    Article  PubMed  CAS  Google Scholar 

  8. Garcia, C.K., Wilund, K., Arca, M., Zuliani, G., Fellin, R., Maioli, M., Calandra, S., Bertolini, S., Cossu, F., Grishin, N., et al. 2001. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292:1394–1398.

    Article  PubMed  CAS  Google Scholar 

  9. Abifadel, M., Varret, M., Rabes, J.P., Allard, D., Ouguerram, K., Devillers, M., Cruaud, C., Benjannet, S., Wickham, L., Erlich, D., et al. 2003. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34:154–156.

    Article  PubMed  CAS  Google Scholar 

  10. Berge, K.E., Tian, H., Graf, G.A., Yu, L., Grishin, N.V., Schultz, J., Kwiterovich, P., Shan, B., Barnes, R., and Hobbs, H.H. 2000. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 290:1771–1775.

    Article  PubMed  CAS  Google Scholar 

  11. Sharp, D., Blinderman, L., Combs, K.A., Kienzle, B., Ricci, B., Wager-Smith, K., Gil, C.M., Turck, C.W., Bouna, M.E., Rader, D.J., et al. 1993. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia. Nature 365:65–69.

    Article  PubMed  CAS  Google Scholar 

  12. Rader, D.J., and Brewer, H.B., Jr. 1993. Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA 270:865–869.

    Article  PubMed  CAS  Google Scholar 

  13. Linton, M.F., Farese, R.V., Jr., and Young, S.G. 1993. Familial hypobetalipoproteinemia. J Lipid Res 34:521–541.

    PubMed  CAS  Google Scholar 

  14. Schonfeld, G., Lin, X., and Yue, P. 2005. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci 62:1372–1378.

    Article  PubMed  CAS  Google Scholar 

  15. Cohen, J., Pertsemlidis, A., Kotowski, I.K., Graham, R., Garcia, C.K., and Hobbs, H.H. 2005. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 37:161–165.

    Article  PubMed  CAS  Google Scholar 

  16. Kotowski, I.K., Pertsemlidis, A., Luke, A., Cooper, R.S., Vega, G.L., Cohen, J.C., and Hobbs, H.H. 2006. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet 78:410–422.

    Article  PubMed  CAS  Google Scholar 

  17. Cohen, J.C., Boerwinkle, E., Mosley, T.H., Jr., and Hobbs, H.H. 2006. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354:1264–1272.

    Article  PubMed  CAS  Google Scholar 

  18. Norum, R.A., Lakier, J.B., Goldstein, S., Angel, A., Goldberg, R.B., Block, W.D., Noffze, D.K., Dolphin, P.J., Edelglass, J., Bogorad, D.D., et al. 1982. Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease. N Engl J Med 306:1513–1519.

    Article  PubMed  CAS  Google Scholar 

  19. Schaefer, E.J., Heaton, W.H., Wetzel, M.G., and Brewer, H.B., Jr. 1982. Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis 2:16–26.

    PubMed  CAS  Google Scholar 

  20. Chiesa, G., and Sirtori, C.R. 2003. Apolipoprotein A-IMilano: current perspectives. Curr Opin Lipidol 14:159–163.

    Article  PubMed  CAS  Google Scholar 

  21. Roma, P., Gregg, R.E., Meng, M.S., Ronan, R., Zech, L.A., Franceschini, G., Sirtori, C.R., and Brewer, H.B., Jr. 1993. In vivo metabolism of a mutant form of apolipoprotein A-I, apo A-IMilano, associated with familial hypoalphalipoproteinemia. J Clin Invest 91:1445–1452.

    Article  PubMed  CAS  Google Scholar 

  22. Nissen, S.E., Tsunoda, T., Tuzcu, E.M., Schoenhagen, P., Cooper, C.J., Yasin, M., Eaton, G.M., Lauer, M.A., Sheldon, W.S., Grines, C.L., et al. 2003. Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. JAMA 290:2292–2300.

    Article  PubMed  CAS  Google Scholar 

  23. von Eckardstein, A. 2006. Differential diagnosis of familial high density lipoprotein deficiency syndromes. Atherosclerosis 186:231–239.

    Article  CAS  Google Scholar 

  24. Fredrickson, D.S. 1964. The inheritance of high density lipoprotein deficiency (Tangier disease). J lin Invest 43:228–236.

    CAS  Google Scholar 

  25. Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J.C., Deleuze, J.F., Brewer, B., Duverger, N., Denefle, P., et al. 1999. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 22:352–355.

    Article  PubMed  CAS  Google Scholar 

  26. Bodzioch, M., Orso, E., Klucken, J., Langmann, T., Bottcher, A., Diederich, W., Drobnik, W., Barlage, S., Buchler, C., Ozcurumez, M.P., et al. 1999. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 22:347–351.

    Article  PubMed  CAS  Google Scholar 

  27. Brooks-Wilson, A., Marcil, M., Clee, S.M., Zhang, L.H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J.A., Molhuizen, H.O., et al. 1999. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 22:336–345.

    Article  PubMed  CAS  Google Scholar 

  28. Marcil, M., Brooks-Wilson, A., Clee, S.M., Roomp, K., Zhang, L.H., Yu, L., Collins, J.A., van Dam, M., Molhuizen, H.O., Loubster, O., et al. 1999. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux [see comments]. Lancet 354:1341–1346.

    Article  PubMed  CAS  Google Scholar 

  29. Cohen, J.C., Kiss, R.S., Pertsemlidis, A., Marcel, Y.L., McPherson, R., and Hobbs, H.H. 2004. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305:869–872.

    Article  PubMed  CAS  Google Scholar 

  30. Clee, S.M., Zwinderman, A.H., Engert, J.C., Zwarts, K.Y., Molhuizen, H.O., Roomp, K., Jukema, J.W., van Wijland, M., van Dam, M., Hudson, T.J., et al. 2001. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation 103:1198–1205.

    PubMed  CAS  Google Scholar 

  31. Brousseau, M.E., Bodzioch, M., Schaefer, E.J., Goldkamp, A.L., Kielar, D., Probst, M., Ordovas, J.M., Aslanidis, C., Lackner, K.J., Bloomfield, R.H., et al. 2001. Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis 154:607–611.

    Article  PubMed  CAS  Google Scholar 

  32. Linsel-Nitschke, P., and Tall, A.R. 2005. HDL as a target in the treatment of atherosclerotic cardiovascular disease. Nat Rev Drug Discov 4:193–205.

    Article  PubMed  CAS  Google Scholar 

  33. Kuivenhoven, J.A., Pritchard, H., Hill, J., Frohlich, J., Assmann, G., and Kastelein, J. 1997. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. [Review] [102 refs]. J Lipid Res 38:191–205.

    PubMed  CAS  Google Scholar 

  34. Rader, D.J., Ikewaki, K., Duverger, N., Schmidt, H., Pritchard, H., Frohlich, J., Dumon, M.F., Fairwell, T., Zech, L., Santamarina-Fojo, S., et al. 1994. Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease. J Clin Invest 93:321–330.

    PubMed  CAS  Google Scholar 

  35. Lewis, G.F., and Rader, D.J. 2005. New insights into the regulation of HDL metabolism and reverse cholesterol transport. Circ Res 96:1221–1232.

    Article  PubMed  CAS  Google Scholar 

  36. Wang, X., and Paigen, B. 2005. Genetics of variation in HDL cholesterol in humans and mice. Circ Res 96:27–42.

    Article  PubMed  CAS  Google Scholar 

  37. Brown, M.L., Inazu, A., Hesler, C.B., Agellon, L.B., Mann, C., Whitlock, M.E., Marcel, Y.L., Milne, R.W., Koizumi, J., Mabuchi, H., et al. 1989. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature 342:448–451.

    Article  PubMed  CAS  Google Scholar 

  38. Inazu, A., Brown, M.L., Hesler, C.B., Agellon, L.B., Koizumi, J., Takata, K., Maruhama, Y., Mabuchi, H., and Tall, A.R. 1990. Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. N Engl J Med 323:1234–1238.

    Article  PubMed  CAS  Google Scholar 

  39. Inazu, A., Jiang, X.C., Haraki, T., Yagi, K., Kamon, N., Koizumi, J., Mabuchi, H., Takeda, R., Takata, K., Moriyama, Y., et al. 1994. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. J Clin Invest 94:1872–1882.

    PubMed  CAS  Google Scholar 

  40. Ikewaki, K., Rader, D.J., Sakamoto, T., Nishiwaki, M., Wakimoto, N., Schaefer, J.R., Ishikawa, T., Fairwell, T., Zech, L.A., and Nakamura, H. 1993. Delayed catabolism of high density lipoprotein apolipoproteins A-I and A-II in human cholesteryl ester transfer protein deficiency. J Clin Invest 92:1650–1658.

    PubMed  CAS  Google Scholar 

  41. Ikewaki, K., Nishiwaki, M., Sakamoto, T., Ishikawa, T., Fairwell, T., Zech, L.A., Nakamura, H., Brewer, H.B., Jr., and Rader, D.J. 1995. Increased catabolic rate of low density lipoproteins in humans with cholesteryl ester transfer protein deficiency. J Clin Invest 96:1573–1581.

    PubMed  CAS  Google Scholar 

  42. Rader, D.J. 2004. Inhibition of cholesteryl ester transfer protein activity: a new therapeutic approach to raising high-density lipoprotein. Curr Atheroscler Rep 6:398–405.

    Article  PubMed  Google Scholar 

  43. Boekholdt, S.M., and Thompson, J.F. 2003. Natural genetic variation as a tool in understanding the role of CETP in lipid levels and disease. J Lipid Res 44:1080–1093.

    Article  PubMed  CAS  Google Scholar 

  44. Duffy, D., and Rader, D.J. 2005. Drugs in development: targeting high-density lipoprotein metabolism and reverse cholesterol transport. Curr Opin Cardiol 20:301–306.

    Article  PubMed  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2007 Humana Press Inc.

About this chapter

Cite this chapter

Cuchel, M., Qasim, A., Rader, D.J. (2007). Genetic Disorders of Lipoprotein Metabolism. In: Davidson, M.H., Toth, P.P., Maki, K.C., Gotto, A.M. (eds) Therapeutic Lipidology. Contemporary Cardiology. Humana Press. https://doi.org/10.1007/978-1-59745-533-6_2

Download citation

  • DOI: https://doi.org/10.1007/978-1-59745-533-6_2

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-551-4

  • Online ISBN: 978-1-59745-533-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics