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
Current Medicinal Chemistry
Title: Tangier Disease Four Decades of Research: A Reflection of the Importance of HDL
Volume: 13 Issue: 7
Author(s): G. D. Kolovou, D. P. Mikhailidis, K. K. Anagnostopoulou, S. S. Daskalopoulou and D. V. Cokkinos
Affiliation:
Keywords: High density lipoprotein cholesterol, Tangier disease, coronary heart disease, atherosclerosis, adenosine triphosphate (ATP)-binding cassette transporter A1
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.
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Kolovou D. G., Mikhailidis P. D., Anagnostopoulou K. K., Daskalopoulou S. S. and Cokkinos V. D., Tangier Disease Four Decades of Research: A Reflection of the Importance of HDL, Current Medicinal Chemistry 2006; 13 (7) . https://dx.doi.org/10.2174/092986706776055580
DOI https://dx.doi.org/10.2174/092986706776055580 |
Print ISSN 0929-8673 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-533X |
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