Gene Mutation Reduces Level Of Triglycerides

By Irene Collins
11:31, December 12th 2008
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Gene Mutation Reduces Level Of Triglycerides

The study of 809 members of the Old Order Amish community found that there are some carriers of a gene mutation tended to have higher levels of "good" cholesterol in their blood streams and lower levels of "bad" cholesterol.  They found that this mutation appears to speed up the breakdown of fats in the blood, which can cause furring of the arteries, a sign of heart disease. Scientists hope that by figuring out how the gene mutation works they can develop drugs which could help all sufferers.

"The Old Order Amish are ideal for genetic research because they are a genetically homogenous people who trace their ancestry back 14 generations to a small group that came to Pennsylvania from Europe in the mid-1700s," Dr. Alan Shuldiner, one of the researchers, said in a statement.

It’s almost like being born with a built-in cholesterol-balance drug. The gene is called APOC3, and researchers found that 5% of the people they studied had the protective mutation, according to the report.

In the study, Toni Pollin PhD, an assistant professor of medicine at the University of Maryland School of Medicine, in Baltimore, and colleagues gave the members of the Old Order Amish community in Lancaster County, Pennsylvania., a super-high-fat milk shake (78% of calories from fat), and then tracked them for the next six hours.

The researchers tested the participants’ DNA and found that those who coped with the fatty drink better than others had an APOC3 mutation. The researchers believe this genetic mutation was introduced into the Lancaster Amish population by a person born in the mid-1700s, and the trait seems to be very rare or completely absent in the general population.

The gene also is regulated by insulin, notes Dr. Daniel Rader, a heart disease researcher at the University of Pennsylvania, and people with diabetes have high levels of APOC3, high levels of triglycerides, and an increased risk of heart disease.



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