Mutations In Single Gene Might Defend Against Heart Attack

According to the recent study, rare mutations/changes that blackout a single gene are associated with lower cholesterol levels and a 50% abatement in the chances of heart attack.

As per the press release statement, the gene – NPC1L1 is the target of the ‘Ezetimibe’ drug – frequently prescribed to lower the level of cholesterol.

Every person gets two copies of most genes, naturally – one copy from each parent. The recent study reveals that the one inactive copy of gene NPC1L1 seemed to be protected against high LDL cholesterol and heart disease.

The lead author of the study, Nathan O. Stitziel, MD, PhD, a cardiologist at Washington University School of Medicine, said “The study shows that human genetics can lead us when it comes to considering right genes to focus on clinical therapy. When individuals get one copy of the gene no longer working, it’s similar to going for a drug all of their lives that’s suppressing this gene.”

Furthermore, the scientists observed that individuals with just one working copy of the gene had LDL cholesterol levels and average of 12 mg per deciliter less than the broader population of individuals with two working copies of the gene.

Co-author of the study Sekar Kathiresan, MD, from the Broad Institute, and director of preventive cardiology at Massachusetts General Hospital, said “Protective changes/mutations such as the one we have just recognized for cardiovascular disease really are a treasure trove for understanding human biology. They are able to train us concerning the underlying reasons of disease and indicate important drug targets.”

The study is published in The New England Journal of Medicine.