Cellular and Molecular Life Sciences CMLS

, Volume 62, Issue 19, pp 2150–2160

Tangier disease: still more questions than answers

Authors

    • Institut für Klinische Chemie und LaboratoriumsmedizinWestfälische Wilhelms-Universität
    • Institut für Arterioskleroseforschung an der Universität Münster
  • A. T. Remaley
    • Department of Laboratory Medicine, Warren Grant Magnuson Clinical CenterNational Institutes of Health
Visions & Reflections

DOI: 10.1007/s00018-005-5125-0

Cite this article as:
Nofer, J. & Remaley, A.T. Cell. Mol. Life Sci. (2005) 62: 2150. doi:10.1007/s00018-005-5125-0

Abstract.

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.

Key words.

Tangier diseasehigh-density lipoprotein (HDL)arteriosclerosisreverse cholesterol transportcholesterol effluxATP-binding cassette transporter 1 (ABCA1)

Copyright information

© Birkhäuser Verlag, Basel 2005