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New Human Genetic Link To High Levels Of 'Good' Cholesterol

Date:
March 20, 2009
Source:
Journal of Clinical Investigation
Summary:
HDL cholesterol, or "good" cholesterol, helps eliminate excess "bad" cholesterol that might otherwise block arteries. As such, individuals with high plasma HDL cholesterol levels have a decreased risk of coronary artery disease. Researchers now show that mutations in the LIPG gene, which codes for the enzyme endothelial lipase, result in high plasma HDL cholesterol levels, providing important human genetic evidence that inhibition of endothelial lipase is likely to raise "good" cholesterol levels.

HDL cholesterol, or "good" cholesterol, helps eliminate excess "bad" cholesterol that might otherwise block arteries. As such, individuals with high plasma HDL cholesterol levels have a decreased risk of coronary artery disease.

University of Pennsylvania researchers now show that mutations in the LIPG gene, which codes for the enzyme endothelial lipase, result in high plasma HDL cholesterol levels, providing important human genetic evidence that inhibition of endothelial lipase is likely to raise "good" cholesterol levels.

HDL cholesterol (HDL-C), or "good" cholesterol, carries excess cholesterol – that might otherwise block arteries – from blood vessels back to the liver for processing and elimination. As such, individuals with high plasma HDL-C levels have a decreased risk of developing coronary artery disease.

Genetics contribute to determining a person's plasma HDL-C level, and in a new JCI study Daniel Rader and colleagues from the University of Pennsylvania show that mutations in the LIPG gene, which codes for an enzyme known as endothelial lipase, result in high plasma HDL-C levels.

The authors examined the LIPG gene in 585 subjects of European ancestry and identified 10 people with previously unreported rare mutated forms of this gene that were unique to subjects with very high HDL-C levels. Further studies revealed that mutations in the LIPG gene that cause loss of endothelial lipase activity were the cause of increased plasma HDL-C levels.

These data provide important human genetic evidence that inhibition of endothelial lipase is likely to raise HDL-C levels in humans. Whether or not the resulting increase in HDL-C level due to this inhibition would impact cardiovascular health requires further study.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Edmondson et al. Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. Journal of Clinical Investigation, 2009; DOI: 10.1172/JCI37176

Cite This Page:

Journal of Clinical Investigation. "New Human Genetic Link To High Levels Of 'Good' Cholesterol." ScienceDaily. ScienceDaily, 20 March 2009. <www.sciencedaily.com/releases/2009/03/090316173311.htm>.
Journal of Clinical Investigation. (2009, March 20). New Human Genetic Link To High Levels Of 'Good' Cholesterol. ScienceDaily. Retrieved September 1, 2014 from www.sciencedaily.com/releases/2009/03/090316173311.htm
Journal of Clinical Investigation. "New Human Genetic Link To High Levels Of 'Good' Cholesterol." ScienceDaily. www.sciencedaily.com/releases/2009/03/090316173311.htm (accessed September 1, 2014).

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