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ABC1:The Gene for Tangier Disease and Beyond

Jose M. Ordovas
DOI: http://dx.doi.org/10.1111/j.1753-4887.2000.tb01843.x 76-79 First published online: 1 March 2000

Abstract

Coronary heart disease (CHD) is the leading cause of death in America. CHD is multifactorial, and low plasma high-density lipoprotein cholesterol (HDL-C) levels are among the most common biochemical abnormalities observed in CHD patients. The mechanisms controlling plasma HDL-C levels are poorly understood. However, several groups recently reported that mutations at the ATP-binding cassette transporter 1 gene (ABC1) are responsible for a rare disorder known as Tangier disease, which is characterized in the homozygous state by the virtual absence of circulating plasma HDL. This new finding represents a major breakthrough in our knowledge of lipoprotein metabolism and, more specifically, the reverse cholesterol transport. This information could lead to a more precise assessment of the genetic predisposition to CHD as well as to new therapeutic tools to prevent and treat CHD.

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