A small group of Amish people have a gene mutation that may protect them from heart disease, a finding that holds promise for developing therapies targeting this gene, University of Maryland researchers said.
The mutation, found in about 5 percent of the Amish studied, speeds the breakdown of triglycerides, which are associated with a higher risk of cardiovascular disease.
Dr. Michael Miller, a preventative cardiologist and co-author of a study published in today’s issue of the journal Science, called it a “landmark” finding, because most heart disease research has focused on cholesterol, not triglycerides.
“It’s such an important addition,” he said.
Triglycerides and cholesterol are fats that circulate in the blood. Amish with the gene mutation have half the amount of a protein called apoC3, which is linked to triglycerides, researchers found.
This protein keeps the triglycerides from breaking down, so having low levels of this protein allows someone to flush the triglycerides faster. This protects them from heart disease, said Toni Pollin, lead investigator and assistant professor of medicine at University of Maryland School of Medicine.
“They were clearing them out of their blood much faster,” she said.
For the study, more than 800 members of the Old Order Amish community of Lancaster County, Pa., drank a high-fat milkshake and were monitored to see how their arteries were dealing with the fatty meal.
Those with the gene mutation had fewer calcium deposits in their arteries, which is a sign of cardiovascular disease. The mutation was likely introduced into the population by a person born in the mid-1700s, researchers said.
The Amish are a “great population” for studying genetic mutations because they tend to be related and have well-documented family histories, Pollin said.
Researchers have been studying the Amish for 15 years looking for genes that cause problems such as obesity and high blood pressure.
