A rare gene variant that typically appears in Amish communities may hold the key to preventing heart disease, according to researchers from the University of Maryland School of Medicine.
The study found that those that have this particular gene, known as B4GALT1, appear to have lower levels of heart-damaging cholesterol, as well as a blood-clotting protein called fibrinogen.
This gene is found in less than 1 in 10,000 individuals, but it’s still present in 12 percent of Pennsylvania Amish communities in Lancaster County.
Studies on this gene have shown that some mutations could alter cholesterol levels. Too much can lead to cloggedarteries, heart disease, and other complications. This is still the most common cause of death in the world.
Scientists involved in this study claimed that it is the first time that scientists have identified a gene which lowers the risk of heart disease from two distinct but equally important genes.
Amazingly, twelve percent of Pennsylvania Amish communities in Lancaster County are carriers of this gene variant.
This gene is known as B4GALT1 (pictured). It appears that those who have it have lower levels heart-damaging cholesterol as well as fibrinogen, a protein which clots blood.
Pictured: Amish farmer in Lancaster County cuts hay using a team of two horses.
A media release by May Montasser PhD, University of Maryland School of Medicine assistant, stated that the study used data from more then 500,000 individuals to determine which variants had lower heart disease risk.
“The genetic variant seems to control cholesterol and fibrinogen synthesis or speed up their elimination from the body, protecting the heart. These findings could help to develop targeted drugs to mimic this variant’s action in order to protect the arteries against plaque and clots.
Researchers sequenced genetic samples from almost 7,000 Amish volunteers who had been involved with the University’s Medical School since 1995.
The study ultimately found a connection between having the B4GALT1 gene variant and nearly 14 mg/dL lower LDL cholesterol with 30 mg/dL lower fibrinogen.
Based on this connection, the research team looked into how gene variants affected genetically engineered mice to be carriers of B4GALT1.
Giusy Della Gatta, study leader, reports that the mouse model encoding this mutation also had lower levels of LDL cholesterol, and fibrinogen. This confirms its effect.
In rural Lancaster County in Pennsylvania, an Amish farmer cuts hay using a two-horseteam.
Pictured: University of Maryland School of Medicine, where the gene variant study took place
“This model is an indispensable tool for unravelling the molecular mechanisms which help prevent cardiovascular disease.”
Research has shown that Amish people have an extremely high level of the rare variant gene. Researchers believe this is due to their common lineage and homogeneous lifestyle. It makes it easier for scientists to understand the connections between health and genes.
E. Albert Reece MD PhD, MBA, Executive Vice president for Medical Affairs at UM Baltimore says, “This breakthrough finding is possible only because of the involvement and partnership from the Amish community.”
“We are grateful to them for their continued commitment in research and the advancement of precision medicine.”