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Current Medicinal Chemistry

Volume 13 Issue 7
ISSN: 0929-8673
eISSN: 1875-533X

 

   All Titles

  Tangier Disease Four Decades of Research: A Reflection of the Importance of HDL
  pp.771-782 (12) Authors: G. D. Kolovou, D. P. Mikhailidis, K. K. Anagnostopoulou, S. S. Daskalopoulou, D. V. Cokkinos
 
 
      Abstract

Reduced circulating levels of high density lipoprotein cholesterol (HDL-C) are a frequent lipoprotein disorder in coronary heart disease patients and can be caused by either genetic and/or environmental factors (sedentary lifestyle, diabetes mellitus, smoking, obesity or a diet enriched in carbohydrates). Extremely low serum HDL-C levels occur in patients with Tangier disease (TD), which is caused by mutations in the adenosine triphosphate (ATP)-binding cassette transporter A1 (ABCA1). Clinical manifestations are related to the storage of cholesteryl esters in reticuloendothelial tissues and to peripheral neuropathy.

This review focuses on the genetic and lipid abnormalities of TD, the consequence of these on clinical outcome and the possible treatment options. These abnormalities reflect the importance of HDL in the pathogenesis of vascular disease.

 
  Keywords: High density lipoprotein cholesterol, Tangier disease, coronary heart disease, atherosclerosis, adenosine triphosphate (ATP)-binding cassette transporter A1
  Affiliation: Onassis Cardiac SurgeryCenter, 356 Sygrou Ave, 17674 Athens, Greece.
 
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