CCMB Scientists Find Why Mortality Rate From Cardiovascular Diseases is High in India

CCMB Scientists Find Why Mortality Rate From Cardiovascular Diseases is High in India - Sakshi Post

Scientists from the CCMB have discovered why the mortality rate from cardiovascular diseases is so high in India.

New genetic risk factors for heart failure in Indians have been discovered.

Hyderabad: A team of researchers from the CSIR-Centre for Cellular and Molecular Biology (CCMB) in Hyderabad has discovered novel genetic abnormalities that cause dilated cardiomyopathy in Indians.

According to research published in the Canadian Journal of Cardiology – Open, a team led by Dr K. Thangaraj discovered novel genetic abnormalities in the beta myosin heavy chain gene (I-MYH7).

When compared to western countries, India has an extremely high mortality rate owing to cardiovascular disorders. Heart failure is common in severe cardiomyopathy, one of the cardiovascular disorders. Cardiomyopathy causes the heart muscle's essential structure to alter, making it unable to pump blood properly. This raises the chances of heart failure, which can lead to sudden cardiac death.

I-MYH7 is a significant gene linked to cardiac disorders all around the world. "However, not many genetic studies have been carried out in Indian cardiomyopathy patients. Hence, we sequenced the I-MYH7 gene of 137 dilated cardiomyopathy patients along with 167 ethnically matched healthy controls to identify the mutation(s), if any, that are associated with dilated cardiomyopathy in Indian patients," said Dr Thangaraj, senior author of this study, and presently Director of the Centre for DNA Fingerprinting and Diagnostics (CDFD).

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"Our study revealed 27 variations, of which 7 mutations (8 per cent) were novel and were detected exclusively in Indian dilated cardiomyopathy patients. These included four missense mutations that altered evolutionarily conserved amino acids in the I-MYH7 protein, and were predicted to be pathogenic by bioinformatics tools. In a subsequent study using homology models of I-MYH7, we for the first time demonstrated how these mutations uniquely disrupt a critical network of non-bonding interactions at the molecular level, and may contribute to the development of disease phenotype," said Dr Deepa Selvi Rani, the lead author of this study.

Specific amino acids make up each protein molecule. The 3D structure of the protein, which defines its function, is driven by various interactions between amino acid residues. A single amino acid substitution in a key place can drastically alter the structure of a protein, resulting in disease pathogenicity.

"This study can help in developing gene editing methods that may rescue cardiac contractility of failing hearts among Indians with novel mutations," CCMB Director Dr Vinay Kumar Nandicoori said.


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