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Amish Genes Provides Clues About Heart Disease

December 24, 2008

A gene mutation among a segment of the Amish population appears to help prevent cardiovascular disease.  The discovery of this mutation could some day help scientists develop new therapies to prevent the disease, according to a new study.

More than 800 members of the Old Order Amish community in Lancaster County, Pa., participated in a study conducted by researchers at the University of Maryland School of Medicine in Baltimore.

“We found that about five percent of the Amish have a gene mutation that speeds up the breakdown of triglycerides, which are fat particles in the blood associated with an increased risk of coronary artery disease,”  lead investigator Toni I. Pollin, Ph.D., an assistant professor of medicine at the University of Maryland School of Medicine was quoted as saying.

Those who carry this mutation have half the amount of apoC-III, a protein linked to triglycerides, than people without the gene variant. Pollin said those who have this mutation also have higher levels of HDL-cholesterol, the so-called “good” cholesterol, and lower levels of LDL-cholesterol, the “bad” cholesterol. Plus, they also have less arteriosclerosis — hardening of the arteries.

The researchers said they believe a person who was born in the mid-1700s first introduced the gene mutation into the Lancaster County Amish community.

Since 1993, Maryland researchers have conducted more than a dozen studies of the Amish to search for genes that cause a variety of medical problems and diseases, such as type 2 diabetes, obesity, osteoporosis and high blood pressure. They said the group makes an ideal test pool because the Amish are a genetically homogenous population that can trace their ancestry back 14 generations to a small group that came to Pennsylvania from Europe in the mid-1700s.

“We have uncovered a wealth of information in our studies of the Amish over the years, and much of what we have found is not only applicable to this unique population, but the general public as well,” said Alan R. Shuldiner, M.D., the study’s senior author.

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