An international team of researchers, led by the Centre for Cellular and Molecular Biology at Hyderabad, India, reports about a gene that increases the risk of cradiomyopathy sevenfold. From Mint:
About 45 million Indians are at a risk of chronic heart failure, according to a new research that has identified a genetic mutation in the people of South Asian ancestry.
An international team of researchers, led by the Centre for Cellular and Molecular Biology (CCMB) at Hyderabad, reports in Monday’s issue of Nature Genetics, a monthly journal, that the gene that encodes for a certain cardiac protein has a deletion that increases the risk of cradiomyopathy sevenfold. Cardiomyopathy is characterized by weakening of heart muscles and people carrying this mutation have a lifelong predisposition to heart failure.
Analysing the DNA of 800 cardiac patients undergoing treatment at nine hospitals across India, researchers found that a 25 base pair deletion in the gene making the heart protein, called myosin binding protein-C (MYBPC3), makes people susceptible to this disorder.
And from the National Health Service, UK, website:
What kind of scientific study was this?
This was an extensive study on the association between a particular genetic mutation and increased risk of cardiomyopathy (disease of heart muscle) in people from India.
Cardiomyopathy – the subject of this study – describes several types of diseases of the actual muscle of the heart such as muscle thickening, stiffening, scarring, and stretching/dilation.
This and other factors including high blood pressure, valve disease, heart attack and angina can lead to heart failure. Heart failure occurs when the heart stops working efficiently and cannot pump enough blood around the body to sustain health.
The first part of the study was a case-control study, split into two sections. Researchers first examined 354 individuals with cardiomyopathies (including 33 who had died). These were matched to 238 controls (in terms of ancestry, age, gender and geography).
The researchers were interested in an mutation in a gene called MYBPC3. This gene is used by the body to produce a particular protein but people with the mutation produce an altered version of this protein.
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