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Amish Genetic Abnormality Protects Against Heart Disease

December 12, 2008

A ground breaking discovery has found a rare genetic abnormality in an Amish community protects them from heart disease. Researchers said on Thursday the finding could lead to new drugs to prevent heart ailments.

Researchers wrote in the journal Science that about 5 percent of Old Order Amish people in Pennsylvania’s Lancaster County have only one working copy of a gene that makes a protein that slows the breakdown of triglycerides. Most people normally have two copies of the gene. 

“People who have the mutation all have low triglycerides,” said Toni Pollin of the University of Maryland School of Medicine in Baltimore.

Researchers believe the 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.

“This gives us clues that ultimately could develop future treatments.”

They found triglycerides – the fat that circulates in the blood – naturally disappears more quickly in these people than in people without this gene mutation.

Health experts say high triglyceride levels can contribute to hardening and narrowing of the arteries, raising the risk of heart attack, heart disease and stroke.

Pollin said new drugs might target this gene, called APOC3, to decrease the amount of the protein it produces.

Researchers studied the genes of about 800 Amish people, and found that one in 20 had the mutation. These people had high levels of HDL-cholesterol, the so-called good cholesterol, and low levels of LDL-cholesterol, the so-called bad cholesterol.

“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,” said one of the researchers Dr. Alan Shuldiner.

The devoutly Christian Amish have largely kept to themselves in close-knit farming communities, typically marrying other Amish people through the years.
Amish communities also are found in Ohio, Indiana and Missouri.

Image Courtesy UPI

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