1 in 25 people from India carries a gene mutation that causes heart failureJune 9th, 2010 - 1:47 pm ICT by ANI
Washington, June 9 (ANI): In India and other south Asian countries, one in 25 people carries a gene mutation that causes heart failure, a new research has found.
Loyola University Health System researcher Sakthivel Sadayappan, said that studying this gene, and the protein it encodes, could lead to new treatments for heart failure.
Sadayappan has studied the gene and protein for 15 years.
Investigating the protein could provide ‘a better understanding of the mechanics of heart function during health and disease,’ Sadayappan and first author David Barefield said.
Previous studies by Sadayappan and other researchers found that about 4 percent of people who live in India, Pakistan, Sri Lanka, Indonesia and Malaysia carry the mutation. Carriers have about a 90 percent chance of developing heart failure after age 45.
About 60 million people worldwide, including about 40 million Indians, carry the mutation. (Sadayappan, who is from India, is not a carrier.) Sadayappan said the mutation likely arose in a single person roughly 33,000 years ago, and spread throughout south Asia.
The gene encodes for a protein, called cardiac myosin binding protein-C (cMyBP-C), that 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.
Due to this modification, the protein is not properly incorporated into the functioning unit of cardiac muscle called sarcomere. Consequently, the heart does not contract properly.
In younger carriers, the heart can compensate for this defect. But as the person ages, his or her heart is no longer able to compensate. Heart muscle becomes inflamed and does not work well, a condition called cardiomyopathy.
The most common manifestation of cardiomyopathy is heart failure — the heart can’t pump enough blood to the rest of the body.
There is no current treatment to prevent heart failure in people who carry the mutated gene. However, a heart-healthy diet and exercise can delay the onset of heart failure, and heart failure drugs can manage symptoms.
Sadayappan said stem cell therapy could be a possible treatment. Stem cells would be taken from a patient’s heart, genetically engineered to replace the mutated gene with a healthy gene, and then injected back in the patient’s heart. But such stem cell therapy has not been tested. Nor is there a commercial test for the gene, Sadayappan said.
But Sadayappan and other scientists are actively researching how cMyBP-C functions. And improved understanding of this crucial protein, Sadayappan said, could lead to new drugs to treat heart failure.
The study has been published in the Journal of Molecular and Cellular Cardiology. (ANI)
- One in 25 Indians carries gene that triggers heart failure - Jun 10, 2010
- New blood test to diagnose heart attacks - Sep 21, 2011
- Researchers discover protein that contributes to a healthy heart - Nov 26, 2009
- Stem cells from diseased hearts can treat cardiac failure - Nov 22, 2010
- Stem cells from aged, damaged hearts could be used to treat heart failure - Nov 18, 2010
- Molecular 'playbook' to stop heart failure risk factor found - Sep 24, 2010
- Scientists discover risk gene for severe heart disease - Oct 22, 2010
- Rest can undo damage to heart cells - Apr 02, 2012
- Stem cell advance paves way for novel treatments for brain diseases - Dec 08, 2010
- New stem cells could help heal damaged hearts - Dec 23, 2011
- Potential new heart attack biomarker identified - Dec 11, 2009
- Scientists grow heart cells in lab - Nov 03, 2011
- Gene that prevents stem cells from turning cancerous identified - Oct 15, 2010
- Protein linked with heart failure discovered - May 24, 2011
- Gene linked to congenital heart defect found - Dec 07, 2010
Tags: 60 million, barefield, base pairs, binding protein, cardiac muscle, cardiomyopathy, dna letters, gene mutation, heart failure, heart function, heart muscle, india pakistan, manifestation, mutation carriers, myosin, person ages, protein c, South Asia, south asian countries, university health system