Ordovas J M
Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, MA 02111, USA.
Nutr Rev. 2000 Mar;58(3 Pt 1):76-9. doi: 10.1111/j.1753-4887.2000.tb01843.x.
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.
冠心病（CHD）是美国的主要死因。冠心病是多因素导致的，血浆高密度脂蛋白胆固醇（HDL-C）水平低是冠心病患者中最常见的生化异常之一。控制血浆HDL-C水平的机制尚不清楚。然而，最近有几个研究小组报告说，ATP结合盒转运体1基因（ABC1）的突变是导致一种罕见疾病——丹吉尔病的原因，这种疾病在纯合状态下的特征是几乎没有循环血浆HDL。这一新发现代表了我们在脂蛋白代谢知识方面的重大突破，更具体地说，是在逆向胆固醇转运方面的突破。这些信息可能会导致对冠心病遗传易感性的更精确评估，以及预防和治疗冠心病的新治疗工具。
