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| [PHOTO: Health Globe] |
Washington: Up to 8 percent of people from India, Pakistan, Bangladesh and other South Asian countries carry a mutated gene that causes heart failure and potentially fatal heart attacks.
The new study of Loyola University Chicago Stritch School of Medicine demonstrates how this gene mutation impairs the heart’s ability to pump blood. Results could point the way to eventual treatments and prevention strategies for an estimated 55 million people of South Asian descent worldwide, including 200,000 people in the United States, who carry the potentially fatal mutation.
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 percent chance of developing heart failure after age 45.
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| [IMAGE: BruceBlaus/CC BY-SA 3.0} |
The mutated gene encodes for a protein, called cardiac myosin binding protein-C (cMyBP-C), which 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 findings point the way toward future treatments that would remove the mutant protein from cells and introduce normal cMyBP-C 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.