Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

The ABCs of cholesterol efflux

Nature Genetics volume 22, pages 316–318 (1999)Cite this article

Access through your institution
Buy or subscribe

Orange tonsils, peripheral neuropathy and a virtual absence of high-density lipoprotein (HDL) cholesterol are the key findings of Tangier disease. Since the early 1960s, when this disease (which is recessive) was first described1, medical students have memorized this constellation of findings for their exams. Concurrently, investigators have sought to determine its cause, convinced that their efforts would yield a treasure trove for the lipid- and lipoprotein-metabolism field. Deciphering the disease was clearly important, as low levels of HDL are linked to the development of coronary heart disease. Now, groups led by Michael Hayden, Gerd Schmitz and Gerd Assmann (see pages 336, 347 and 352) have unearthed riches in the form of mutations in the ATP-binding-cassette transporter 1 gene (ABC1) in people with Tangier disease2,3,4.

Tangier disease was identified in a five-year-old boy born and raised on Tangier Island, Virginia—basically, a large sand bar in the middle of Chesapeake Bay. Settled by a few English watermen in the 1680s, the island has remained a secluded enclave for centuries. It was occasionally the haunt of pirates, and its population was sporadically decimated by pestilence. More than three centuries after the arrival of the initial settlers, its inhabitants still speak a unique Elizabethan dialect, and three-quarters of them bear one of four surnames from the original group of founders. It is not particularly surprising, therefore, that a recessive disease would eventually occur in this locale.

This is a preview of subscription content, access via your institution

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Fredrickson, D.S., Altrocchi, P.H., Avioli, L.V., Goodman, D.S. & Goodman, H.C. Ann. Intern. Med. 55, 1016–1031 (1961).

    Article  Google Scholar 

  2. Brooks-Wilson, A. et al. Nature Genet. 22, 335– 345 (1999).

    Article  Google Scholar 

  3. Brodzioch, M. et al. Nature Genet. 22, 347– 351 (1999).

    Article  Google Scholar 

  4. Rust, S. et al. Nature Genet. 22, 352–355 (1999).

    Article  CAS  Google Scholar 

  5. Assmann, G., von Eckardstein, A. & Brewer, H.B. Jr in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2053–2072 (McGraw-Hill, New York, 1995).

    Google Scholar 

  6. Fielding, C.J. & Fielding, P.E. J. Lipid Res. 36, 211–228 (1995).

    CAS  PubMed  Google Scholar 

  7. Johnson W.J., Mahlberg, F.H., Rothblat, G.H. & Phillips, M.C. Biochim. Biophys. Acta 1085, 10273– 10298 (1991).

    Google Scholar 

  8. Brown, M.S. & Goldstein, J.L. Science 232, 34–47 (1986).

    Article  CAS  Google Scholar 

  9. Acton, S. et al. Science 271, 518–520 (1996).

    Article  CAS  Google Scholar 

  10. Francis, G.A., Knopp, R.H. & Oram, J.F. J. Clin. Invest. 96, 78– 87 (1995).

    Article  CAS  Google Scholar 

  11. Simons, K. & Ikonen, E. Nature 387, 569–572 (1997).

    Article  CAS  Google Scholar 

  12. Rogler, G., Trumbach, B., Klima, B., Lackner, K.J. & Schmitz, G. Arterioscler. Thromb. Vasc. Biol. 15, 683–690 (1995).

    Article  CAS  Google Scholar 

  13. Langmann, T. et al. Biochem. Biophys. Res. Commun. 257, 29–33 (1999).

    Article  CAS  Google Scholar 

  14. Young, S.G. et al. J. Clin. Invest. 96, 2932– 2946 (1995).

    Article  CAS  Google Scholar 

  15. Kim, E. & Young, S.G.B. J. Lipid Res. 39, 703–723 (1998).

    CAS  PubMed  Google Scholar 

  16. Kane, J.P. & Havel, R.J. in The Metabolic Basis of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 1139–1164 (McGraw-Hill, New York, 1989).

    Google Scholar 

  17. Jiang, X.C. et al. J. Clin. Invest. 103, 907– 914 (1999).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Gladstone Institute of Cardiovascular Disease, Post Office Box 419100, San Francisco, 94141-9100, California , USA

    Stephen G Young

  2. Cardiovascular Research Institute, University of California , San Francisco, 94143, California, USA

    Stephen G Young & Christopher J Fielding

  3. Department of Medicine, University of California, San Francisco, 94143, California, USA

    Stephen G Young

  4. Department of Physiology, University of California, San Francisco, 94143, California, USA

    Christopher J Fielding

Authors
  1. Stephen G Young
    View author publications

    You can also search for this author inPubMed Google Scholar

  2. Christopher J Fielding
    View author publications

    You can also search for this author inPubMed Google Scholar

Corresponding author

Correspondence to Stephen G Young.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Young, S., Fielding, C. The ABCs of cholesterol efflux. Nat Genet 22, 316–318 (1999). https://doi.org/10.1038/11878

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/11878

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing