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1 in 25 Indians prone to heart failure due to defective gene: Study

Thursday, June 10, 2010, 21:38 This news item was posted in Discoveries category and has 0 Comments so far.

One in every twenty five people in India and other Asian countries has specific gene that leads to heart failure and death, according to a new study.

The heart-failure causing mechanism is triggered by a gene mutation which specific to the people in Asian region including India.

Perhaps, the new research could explain why the people in India and other Asian countries are more prone to heart failure deaths.

The gene in question encodes for a protein, called cardiac myosin binding protein-C (cMyBP-C).

The mutated gene lacks 25 base pairs (DNA letters). This deficit makes the gene crippled and often unable to perform its function –encoding of cardiac myosin binding protein-C — in a normal fashion.

Cardiac myosin binding protein-C is critical for the normal functioning of the heart.

Due to the altered structure of the protein, it is not properly incorporated into the functioning unit of cardiac muscle called sarcomere.

This leads to improper functioning of heart muscles and inability to contract properly leading to heart failure.

People who have this gene mutation have a 90% chance of developing heart failure after age 45.

A healthy heart take care of the defects due to mutation in younger ages. But as the person ages, his or her heart is no longer able to compensate the deficiencies arising out of the defective gene.

Nearly About 60 million people worldwide, including about 40 million Indians, carry the defective gene, says Sakthivel Sadayappan, a researcher from Loyola University Health System.

The new research is expected to pave way to new treatments for heart failure as the cause is identified as a gene mutation

Currently, there is no treatment to prevent heart failure due to the defective gene.

Earlier studiesĀ  by Sadayappan and other researchers found that about 4 percent of people who live in India, Pakistan, Sri Lanka, Indonesia and Malaysia carry the gene mutation.

The defective gene must have spread across throughout south Asia after arising in a single person around 33,000 years ago, researchers believe.

The people possibly affected with the gene mutation are also not detectable because there is no diagnostic test available commercially to spot out the gene.

The only possible solution is stem cell therapy. Stem cells would be taken from the heart of patients, genetically engineered to replace the mutated gene with a healthy gene, and then injected back in the patient’s heart, according to Sadayappan.

What are heart failure symtoms?

Heart failure or cardiomyopathy is a serious disease in which the heart muscle becomes inflamed and doesn’t work as well as it should.

Some people who develop cardiomyopathy have no signs and symptoms during the early stages of the disease.

But as the condition advances, signs and symptoms usually appear. Cardiomyopathy symptoms may include: Breathlessness with exertion or even at rest, swelling of the legs, ankles and feet, bloating of the abdomen due to fluid buildup, fatigue, irregular heartbeats that feel rapid, pounding or fluttering, dizziness, lightheadedness and fainting.

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