Boston- We all know people who seem to be born with good genes, they can smoke, never exercise, or consume large amounts of bacon, but they are apparently healthy. Now, researchers have found that people who carry a rare genetic mutation that controls the levels of certain fats, or blood lipids, are protected against heart disease. The result, reported yesterday at the annual meeting of the American Society of Human Genetics, suggests that a drug mimicking this effect could prevent heart disease, a major killer.
Triglycerides are lipids that the body made of unused calories in foods and later burns fuel. Doctors often monitor blood levels of the patients of these compounds due to the higher levels have been linked to increased risk of heart disease.
A processing triglyceride player is a protein called ApoC-III which is encoded by the gene APOC3 . It was five years ago, researchers discovered a mutation in APOC3 in 5% of the Amish population in Lancaster County, Pennsylvania. Those who have this variant had exceptionally low triglyceride levels after eating a milkshake loaded with fat. They also had only half as many ApoC-III proteins in the blood, and they were less likely to develop coronary artery calcification, which can lead to coronary heart disease.
The Amish group was too small to allow researchers to directly link gene mutation to less heart disease, however. And it is not known whether the gene appear among non-Amish people.
Now, researchers have found APOC3 mutations in the general population of the United States. They sequenced the DNA encoding the protein, or exomes, 3734 white and African-American volunteers, then combed through the data for genetic variants linked to triglyceride levels. Some people have turned out to be the Amish APOC3 mutation or one of three other variants APOC3 which also disables the copy of the gene. When the team examined the DNA of a larger group of about 111,000 people, they found that almost a 0 worn one of four APOC3 variants, reported Jacy Crosby the University of Texas Health Science Center, Houston, representing a large consortium called the National Heart, Lung, and Blood Institute Exome sequencing project.
500 people with one of these APOC3 not only had less ApoC-III variants their triglyceride levels 38% lower than the average person and blood; they also had a 40% lower risk of coronary heart disease, the effects include heart attacks. This result strengthens the link between APOC3 and heart disease and also supports a possible prevention strategy, Crosby said: Reduce levels of ApoC-III protein could potentially lower lipid levels and protect against heart disease. Such a drug already in clinical trials, she noted.
The new study "is exciting, but we must be cautious" about whether such a drug will work, said geneticist Stephen Rich of the University of Virginia in Charlottesville. Indeed, inhibition of ApoC end of life can not imitate -III be born with APOC3 mutation, which protects for a lifetime, he said.
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