One in twelve Indians carries a heart failure causing gene mutation

A new study carried out by Loyola University Chicago’s Stritch School of Medicine and published in Loyola University Chicago Stritch School of Medicine has revealed that as many as 8 per cent of Indians and other South Asians carry a gene mutation that is known to cause heart failure and potentially fatal heart attacks.

According to the research, the mutated gene encodes for a protein dubbed cardiac myosin binding protein-C (cMyBP-C). This protein controls cardiac muscle contractions and is critical for the normal functioning of the heart. In the mutated gene, 25 base pairs (DNA letters) are missing. As a result, the tail end of the protein is altered.

The study details how the gene mutation impairs heart’s ability to pump blood. The mutation causes hypertrophic cardiomyopathy, the most common form of inherited cardiac disease and the leading cause of sudden cardiac death in young people. Carriers have about a 80 per cent chance of developing heart failure after age 45.

The results of the study could enable researchers to formulate treatments and prevention strategies for those suffering from this sort of mutation – an estimated 55 million people of South Asian descent including 200,000 people in the United States.

Dr. Sadayappan first reported the mutation in 2001 at the World Congress of the International Society for Heart Research, and has been studying it ever since. He added that based on a report from one of his collaborators, the mutation likely arose in a single person roughly 33,000 to 55,000 years ago. The mutation then spread throughout South Asia.

The research concluded that determining the disease mechanism will enable researchers to develop therapies and this is the “first priority to prevent the development of heart failure in millions of carriers worldwide.”