Rare genetic mutation in Amish population linked to ‘bad’ cholesterol levels
May 28, 2024
Low-density lipoprotein, or LDL, is commonly called “bad” cholesterol since high levels of LDL contribute to a higher risk of coronary heart disease.
A recent study conducted on Amish people, who are unique for genetic studies due to their isolation from the general population, shows a direct association between a novel genetic mutation in the SORT1 gene and human LDL levels. SORT1 is a gene that encodes for the protein sortilin, which previous studies suggest might influence LDL levels. However, functional studies on the gene have so far led to contradictory results.
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