A new study has found that a single gene affected by mutation can be linked to a lower cholesterol levels and so also a 50% reduction in the risk of heart attack.
Recent study has found that a gene called NPC1L1which is shut down by mutation is linked to lower cholesterol levels and a 50% reduction of the risk of a heart attack. The gene is of particular interest because it is the target of the drug ezetimibe which is prescribed to lower cholesterol.
Most of the genes in any person are inherited as two copies from each parent. The study found that people with one inactive copy of NPC1L1 appeared to be protected against high LDL Cholesterol and coronary heart diseases.
First author Nathan O. Stitziel, MD, PhD, a cardiologist at Washington University School of Medicine, in the press release said, “This analysis demonstrates that human genetics can guide us in terms of thinking about appropriate genes to target for clinical therapy. When people have one copy of a gene not working, it’s a little like taking a drug their entire lives that is inhibiting this gene.”
It was also seen that persons with only one working copy of the gene had LDL cholesterol levels of 12 milligrams lower than in persons with two working copies of the genes.
Senior author Sekar Kathiresan, MD, of the Broad Institute, and director of preventive cardiology at Massachusetts General Hospital, in the press release said, “Protective mutations like the one we’ve just identified for heart disease are a treasure trove for understanding human biology. They can teach us about the underlying causes of disease and point to important drug targets.”