Open AccessABC1:The Gene for Tangier Disease and Beyond
Author(s) -
Ordovas Jose M.
Publication year - 2000
Publication title -
nutrition reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.958
H-Index - 150
eISSN - 1753-4887
pISSN - 0029-6643
DOI - 10.1111/j.1753-4887.2000.tb01843.x
Subject(s) - tangier disease , cholesterol , transporter , disease , coronary heart disease , medicine , lipoprotein , reverse cholesterol transport , atp binding cassette transporter , gene , endocrinology , abca1 , genetics , biology
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.