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Some Gene Mutations May Provide Clue In Causes Of High LDL Cholesterol
Newly Discovered Gene Mutations May Shed Light On Why LDL Is High In Some People

By , About.com Guide

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Dec 10 2008
Scientists have discovered two gene mutations that are linked to an area on chromosome 1 -- or more specifically chromosome 1p13.3 -- that may be the culprit in high LDL cholesterol levels in some individuals. These findings were published in the February 9, 2008 issue of Lancet.

Over 11,000 individuals in Europe with high LDL cholesterol levels participated and allowed their blood to be analyzed for this study. As a result, two new genetic mutations were detected in a few of the individuals tested and appear to be associated with high LDL levels. These mutations are located on chromosome 1, which has been linked to high LDL cholesterol levels before.

While these mutations had not been linked to high cholesterol levels, this area of chromosome 1 has been shown to play a role in the development of heart disease. Chromosome 1 has already been linked to high LDL cholesterols before. Mutations in apolipoprotein B, apolipoprotein E, and the LDL cholesterol receptor (which removes LDL cholesterol from the blood) have been previously shown to cause high LDL cholesterol levels as well as familial hypercholesterolemia.

This new discovery may provide new areas for researching inherited cholesterol disorders, such as familial hypercholesterolemia, where cholesterol levels remain high despite and exercise.

What Does This Mean?

However, these two mutations only accounted for 1% of the high LDL cholesterol levels seen in the participants of this study. Since all of the participants in this study were of European decent, more studies need to be done to see if any other genes could also be linked to high LDL cholesterol in other ethnic groups.

More gene mutations have yet to be discovered. However, it isn’t just your genes that can cause high LDL cholesterol and heart disease. Consuming a high-fat diet and leading a sedentary lifestyle also play an important role in high LDL levels.

Source:

Sandhu MS, Waterworth DM, Debenham SL. LDL-cholesterol concentrations: a genome-wide association study. Lancet. 371:483-491.

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