Journal
CELLULAR AND MOLECULAR LIFE SCIENCES
Volume 62, Issue 19-20, Pages 2150-2160Publisher
SPRINGER BASEL AG
DOI: 10.1007/s00018-005-5125-0
Keywords
Tangier disease; high-density lipoprotein (HDL); arteriosclerosis; reverse cholesterol transport; cholesterol efflux; ATP-binding cassette transporter 1 (ABCA1)
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High-density lipoproteins (HDLs) play a central role in transporting cholesterol from peripheral tissues to the liver for elimination from the body. Impairment of HDL-mediated cholesterol transport favors cholesterol deposition in the arterial wall and promotes development of arteriosclerosis. Tangier disease is a severe HDL deficiency syndrome characterized by the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. A three-decade search for a culprit in Tangier disease led to the identification of mutations in a cell membrane protein called ABCA1, which mediates the secretion of excess cholesterol from cells into the HDL metabolic pathway. Because of its ability to deplete cells of cholesterol and to raise plasma HDL levels, ABCA1 has become a promising therapeutic target for preventing cardiovascular disease.
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