Allele-defender

Gene Variant Protecting against Heart Disease Found in Amish Community

Marina Astvatsaturyan, Echo of Moscow

A rare variant of the gene, which is much more common in members of the Amish community, an isolated community of Protestant followers of Jacob Amman, may prevent the development of heart disease, according to scientists at the University of Maryland (University of Maryland).

Article by Montasser et al. Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen published in the journal Science.

This gene, designated B4GALT1, provides low levels of low-density lipoproteins, the so-called "bad" cholesterol, as well as the protein fibrinogen, which plays a key role in the formation of blood clots. In the general population, it occurs in less than one person out of 10,000. However, in Lancaster County, where the bulk of the American Pennsylvania Amish community lives, the occurrence of the variant reaches 12 percent.

In previous studies, it was found that some genetic mutations can affect the level of cholesterol in the human body, increasing it. Now, for the first time, a gene has been discovered that reduces the level of two different risk factors for heart disease. "According to data obtained from more than 500,000 people from the general population, it is known that carriers of this gene variant have a 35 percent reduced risk of heart disease," study leader May Montasser (May Montasser) is quoted as saying by the University of Maryland. "The genetic variant probably either controls the synthesis of cholesterol and fibrinogen, or enhances their clearance from the blood, which protects the cardiovascular system. This discovery may lead to the creation of drugs that, by mimicking the action of a genetic variant, will free the arteries from atherosclerotic plaques and blood clots," says the researcher.

The scientists read the DNA sequence of samples obtained from 7,000 Amish volunteers participating in the study. In the blood of carriers of the genetic variant B4GALT1, the level of low-density lipoprotein cholesterol was 14 mg/deciliter, and fibrinogen was 30 mg/deciliter lower than the population average. Having established a link between this variant and reduced levels of cardiovascular risk factors, the authors of the study decided to test the effect of B4GALT1 in a specially designed line of genetically modified mice.

In a mouse model, the idea was confirmed: rodents with a variant of the Amish gene were distinguished by a reduced level of low-density lipoproteins and fibrinogen. The results of the study are published in Science. The Amish population is of great interest to geneticists because of their common origin and the same lifestyle, which facilitates the identification of unique links between certain genes and an individual's state of health.

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