The ABCs of cholesterol efflux (original) (raw)

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

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.

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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

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

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