Single mutated gene discovered to protect heart from disease

Single mutated gene discovered to protect heart from disease

The study concluded that these rare mutations resulted in a 50 percent lower risk of a heart attack.

A new study, published in the New England Journal of Medicine, found that a gene mutation may help protect people from coronary heart disease.  The mutation inhibits the activity of NPC1L1 protein, which lowers plasma levels of low-density lipoprotein cholesterol.  Basically, the gene mutation naturally does what a drug would aim to do in order to lower cholesterol and help reduce heart disease risk.

Researchers from the Washington University in St. Louis, in addition to teams from Harvard and MIT, published this study.  The study concluded that these rare mutations resulted in a 50 percent lower risk of a heart attack.  The mutations worked by shutting down a single gene that has been linked to lower cholesterol levels.  In particular, the individuals that had one inactive copy of the NPC1L1 gene out of the two copies that each person has demonstrated lower heart disease risk.

According to the National Heart, Lung, and Blood Institute, coronary heart disease is a disease in which a waxy substance called plaque builds up inside the coronary arteries.  Since arteries supply oxygen-rich blood to the heart muscle, plaque jeopardizes heart health.  Over time, plaque can harden or rupture.  Hardened plaque reduces the flow of oxygen-rch blood and ruptured plaque can lead to a blood clot.

A heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off.  If blood flow is not restored quickly, the affected section of the heart muscle begins to die.  Without quick treatment, a heart attack can lead to serious health problems or death.  In addition to the risk of heart attack, coronary heart disease can lead to arrhythmias and heart failure.

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