New human genetic link to high levels of 'good' cholesterol

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Public release date: 16-Mar-2009

http://www.eurekalert.org/pub_releases/2009-03/joci-nhg031209.php

Contact: Honey

press_releases@...

Journal of Clinical Investigation

New human genetic link to high levels of 'good' cholesterol

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 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.

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TITLE: Loss-of-function variants in endothelial lipase are a cause of

elevated HDL cholesterol in humans

AUTHOR CONTACT:

J. Rader

University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Phone: ; Fax: ; E-mail: rader@...

View the PDF of this article at:

https://www.the-jci.org/article.php?id=37176

--

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" Ask the Parkinson Dietitian " http://www.parkinson.org/

" Eat well, stay well with Parkinson's disease "

" Parkinson's disease: Guidelines for Medical Nutrition Therapy "

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