Rare gene variant, which appears more frequently in Amish community – with 12 percent of Pennsylvania Amish carrying the mutation – may hold key to preventing heart disease, researchers say
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.
Less than one in 10,000 people have this gene, yet amazingly 12 percent of the Pennsylvania Amish community in Lancaster County carry the gene variant.
Past studies on the gene revealed that certain mutations can change one’s cholesterol levels, too much of which can cause clogged arteries and cardiovascular diseases, which remains the leading cause of death worldwide.
Researchers involved in the study claim this is the first time scientists have isolated a gene that lowers two different yet equally important heart disease risk factors.
Amazingly, 12 percent of the Pennsylvania Amish community in Lancaster County, pictured, carry the gene variant
Those that have this particular gene, known as B4GALT1, pictured, appear to have lower levels of heart-damaging cholesterol, as well as a blood-clotting protein called fibrinogen
Pictured: An Amish farmer rakes cut hay with a two-horse team in rural Lancaster County, Pennsylvania
‘Leveraging data from more than 500,000 from the general population, it was found that those who carried this variant had a 35 percent lower risk of heart disease compared to those who did not,’ says study leader and University of Maryland School of Medicine assistant professor May Montasser, PhD, in a media release.
‘The genetic variant appears to either control the synthesis of cholesterol and fibrinogen or accelerate their clearance from the blood, which protects the heart. This finding could lead to targeted drugs that mimic the action of this variant to keep arteries free of plaque and clots.’
Genetic samples taken from nearly 7,000 Amish participants, who have been working with the University’s Medical School team since 1995, were sequenced by researchers, the study showed.
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.
The research team examined how the gene variant affected mice genetically modified to carry B4GALT1 based off of this connection.
‘The mouse model, encoding for this gene mutation, also showed decreased levels of LDL cholesterol and fibrinogen, confirming the effect of this variant,’ reports study leader Giusy Della Gatta.
An Amish farmer rakes cut hay with a two-horse team, pictured, in rural Lancaster County, PA
Pictured: University of Maryland School of Medicine, where the gene variant study took place
‘This model represents an invaluable tool to unravel the molecular mechanisms that help protect against cardiovascular disease.’
The reason behind the highly concentrated amount of the rare gene variant among the Amish population stems from their ‘common lineage and homogeneous lifestyle,’ researchers explained, which makes it easier to find and understand rare connections between a person’s health and certain genes.
‘This is a ground-breaking finding and would not have been possible without the participation and partnership of the Amish community,’ says E. Albert Reece, MD, PhD, MBA, Executive Vice President for Medical Affairs at UM Baltimore.
‘We are so grateful for their continuing commitment to research and advancement of precision medicine.’