A team of scientists at the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad have found novel genetic mutations that are responsible for causing dilated cardiomyopathy among Indians.

The team led by Dr K. Thangaraj found novel genetic mutations in the beta myosin heavy chain gene (I-MYH7), as per the findings published in the Canadian Journal of Cardiology - Open.

The I-MYH7 is one of the major genes implicated in cardiac diseases globally.

"Our study revealed 27 variations, of which 7 mutations (8 percent) were novel, and were detected exclusively in Indian dilated cardiomyopathy patients. These included 4 missense mutations; each altered evolutionarily conserved amino acids in the I-MYH7 protein, and were predicted to be pathogenic by bioinformatics tools. Subsequent study using homology models of I-MYH7, we for 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.

Each protein molecule is made up of specific amino acids. Various interactions between the amino acid residues drive the 3D structure of the protein, which determines its function. One amino acid change at a critical site can change a protein structure dramatically and lead to disease pathogenicity.

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