Gene variant reduces cholesterol by 2 mechanisms
High levels of low-density lipoprotein (LDL) cholesterol increases the risk for coronary heart disease. A variant in the human gene encoding the protein sortilin is associated with reduced plasma LDL levels and a decreased risk of heart attack. This variant results in markedly higher sortilin protein expression in liver. Dr. Daniel Rader and colleagues at the University of Pennsylvania in Philadelphia have uncovered a two-pronged mechanism for the change in LDL observed. Using a mouse model system, the Rader team found that increased liver sortilin is responsible for reducing ...