News of the WeekCell Biology

Gene Linked to Faulty Cholesterol Transport

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Science  06 Aug 1999:
Vol. 285, Issue 5429, pp. 814-815
DOI: 10.1126/science.285.5429.814

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In the August issue of Nature Genetics, three groups report that they have nabbed the gene at fault in Tangier disease, a rare hereditary condition in which a defect in cholesterol management leaves the patients with yellow tonsils, oversized spleens, and scant amounts of the heart-protective high density lipoprotein (HDL) cholesterol in their bloodstreams. The discovery not only sheds light on this disorder, but may also lead to a better understanding of familial HDL deficiency syndrome, a much more common genetic deficiency characterized by low blood levels of HDL cholesterol and a high risk of heart attack. The gene found by the three groups encodes a protein known as ABC1. It apparently transports cholesterol from inside cells to the cholesterol-enveloping proteins waiting outside to carry it as HDL cholesterol particles to the liver for recycling back to cells in the body--the first time that researchers have shown how cholesterol gets out of cells.