Genetic defects in triacylglycerol and cholesterol uptake

✍ Scribed by John Stanley

• Book ID: 102462975
• Publisher: Wiley (John Wiley & Sons)
• Year: 2011
• Tongue: English
• Weight: 249 KB
• Volume: 23
• Category: Article
• ISSN: 0956-666X
• DOI: 10.1002/lite.201100103

✦ Synopsis

Abstract

Monogenic diseases of triacylglycerol and cholesterol uptake are comparatively rare. However, studying them has brought two benefits. First, studies of these diseases have clarified the different mechanisms whereby triacylglycerols and cholesterol are removed from the circulation. This is important as high circulating concentrations of both lipids are independent risk factors for cardiovascular disease. Second, knowledge of the mechanisms of triacylglycerol and cholesterol uptake has enabled nutritional and pharmaceutical approaches aimed at enhancing uptake to be developed. This has led to the development of statins a highly effective group of cholesterol lowering drugs although similarly effective drugs for lowering triacylglycerol levels have yet to be developed. While the majority of the population has benefited from these developments patients suffering from these monogenic diseases will probably have to await the development of gene therapy for an effective cure of their condition.