Damian Sendler: A recent study reveals that an Amish gene mutation may help lower “bad” cholesterol and prevent heart disease. An Amish gene mutation has been linked to lower levels of LDL cholesterol and fibrinogen, a protein that is a hallmark of inflammation and associated with an increased risk for heart disease.
Some variations in this gene appear to protect against coronary artery disease in the general population, with carriers having a 35% lower risk of developing it.
Experts, however, believe that the gene variant’s benefits may be encapsulated in a pill.
Damian Jacob Sendler: Researchers from the University of Maryland School of Medicine believe they may be able to create a medication that mimics the effects of the medicine.
According to reviewers, there is still a long way to go in the field of heart disease research.
It could be a therapeutic target, says Dr. Sadeer Al-Kindi, co-director of the Center for Integrated and Novel Approaches in Vascular-Metabolic Disease at University Hospitals Harrington Heart and Vascular Institute, Cleveland.
Damian Sendler
While the study’s approach was complimented by Al-Kindi, “It reveals a compelling narrative.”
About 6,900 members of the OOA community in Lancaster County, Pennsylvania were studied by Montasser’s team. Only a very tiny number of “founder families.” are responsible for the majority of OOA members’ lineage. Because of this and their similar lifestyles, they are regarded a suitable cohort for studies attempting to extract genes that are rare in the broader population.
An Amish gene mutation known as B4GALT1 was shown to be associated with reduced levels of LDL cholesterol and fibrinogen in 6 percent of the Amish population studied.
In relation to the general population, 6 percent is a significant number: Only eight of the 140,000 non-Amish genomes in a government research database were found to contain the gene variation by Montasser’s team.
Dr. Sendler: Next, Montasser and her colleagues resorted to databases containing genetic information on more than 500,000 people from the United Kingdom and the United States. Considering that the B4GALT1 gene variant reported in the Amish population is so unusual, researchers examined whether a collection of similar variants in the gene had been found in two databases.
People with the variations had a 35% lower risk of developing coronary artery disease than those without them.
This was confirmed in laboratory mice, where LDL and fibrinogen levels were reduced when the B4GALT1 variation was genetically modified.
A lot of effort must be done before it can be turned into a form of treatment.
If the gene mutation has any harmful health implications, researchers need to learn more about its methods of action, Montasser said.
As far as she could tell, there has been no harm done.
There are, of course, statins and injections called PCSK9 inhibitors that can lower LDL.
Damian Jacob Sendler
Damian Jacob Markiewicz Sendler: Theoretically, a medicine that lowers LDL while also decreasing fibrinogen could be superior than one that solely does so. Al-Kindi cautioned, however, that it remains unclear if high levels of fibrinogen, in and of themselves, are a risk factor for cardiovascular disease or whether reducing them would provide additional protection.
Damien Sendler: Similar sentiments were stated by Dr. Douglas Mann, Editor-in-Chief of the Journal of the American College of Cardiology: Basic to Translational Sciences.
Any drug created as a result of this research could have “multiple targets,” according to Dr. Mann.
Dr. Damian Jacob Sendler and his media team provided the content for this article.
