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Gene mutation can be responsible for heart failure in Indians

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Washington 18, January: According to a new research that up to 8% of Indians and other South Asians bear gene mutations that lead to heart failure and fatal heart attacks. The study of Loyola University Chicago Stritch School of Medicine demonstrates how this gene mutation gene mutation impairs the heart’s ability to pump blood which could lead to finding a treatment and prevention strategies for South Asian population worldwide.  Some 200,000 people in the United States, is also believed to carry this potentially fatal mutation.

The mutation causes hypertrophic cardiomyopathy, which is the most common form of inherited cardiac disease that can lead to death in young people. The gene carriers have about 80% chance of developing heart failure after the age of 45.

A protein called cardiac myosin binding protein-C (cMyBP-C), controls cardiac muscle contractions and is critical for the normal functioning of the heart is made by this mutated gene. But the mutation results in altering the tail of the protein which impairs its function.

With the help of this finding it would be now easy o target the mutated protein and replace the mutated part with normal protein. Researchers also hope to identify lifestyle and environmental risk factors that aggravate hypertrophic cardiomyopathy in people who carry the gene mutation

Researcher Sakthivel Sadayappan and colleagues concluded that determining the disease mechanism will help in developing therapies, and is the first priority to prevent the development of heart failure in millions of carriers worldwide.

The study is published in the prestigious Journal of Biological Chemistry.

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