ABC1: The gene for Tangier disease and beyond

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 GHD patients. The mechanisms controlling plasma HDL-C levels are poorly und erstood. However, several groups recently reported that mutations at the AT P-binding cassette transporter 1 gene (ABC1) are responsible fora rare diso rder known as Tangier disease, which is characterized in the homozygous sta te by the Virtual absence of circulating plasma HDL. This new finding repre sents 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.