Genetic Variant Discovered in Amish Protects from Heart Disease

 

The study of a gene variant found in the history of amish people shows that it can actually lower levels of fibrinogen and low density lipoprotein (LDL) cholesterol both of which increase risk of heart disease. The study showed that there is a correlation between the missense mutation in the enzyme coding gene B4GALTI and heart health. This was further confirmed in mice. By studying the genomes of the Old Order Amish, researchers can more easily spot variants that may have disappeared in larger populations over time. This is because the amish are a smaller population with less genetic diversity. The study was performed on a bigger scale with the variant and it showed similar results with reduction in components that lead to heart disease. While this may seem promising, there is still years worth of work left to determine if this variant leads to any other potential harmful effects. The reason behind why this occurs is unknown as well. Nonetheless, more research will be done to possibly turn this discovery into a new pharmaceutical target.