CCMB team finds unique gene mutations causing heart disease

Mortality rate due to cardiovascular diseases is very high in India when compared to western countries. In severe cardiomyopathy, a cardiovascular disease where heart failures are common, the integral structure of the heart muscle changes, affecting blood-pumping capacity. This increases the risk of heart failure, leading to sudden cardiac deaths.

A team of scientists led by K. Thangaraj at the Centre for Cellular and Molecular Biology (CCMB) has found novel genetic mutations in -MYH7 or beta myosin heavy chain gene, responsible for causing dilated cardiomyopathy among Indians. This finding has been published in the Canadian Journal of Cardiology - Open on January 14 this year.

-MYH7 is one of the major genes implicated in cardiac diseases globally. “However, not many genetic studies were carried out in Indian cardiomyopathy patients. Hence, we sequenced -MYH7gene 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 Mr Thangaraj, senior author of this study, and director of Centre for DNA Fingerprinting and Diagnostics.

“Our study revealed 27 variations, of which seven mutations (8.0%) were novel, and were detected exclusively in Indian dilated cardiomyopathy patients. These included four missense mutations, each altered evolutionarily conserved amino acids in the -MYH7 protein, and were predicted to be pathogenic by bioinformatics tools. In the subsequent study using homology models of -MYH7, we demonstrated for the first time how these mutations uniquely disrupt a critical network at the molecular level, and may contribute to the development of disease phenotype,” said Deepa Selvi Rani, lead author.

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, the scientists explained.

Gene editing

“This study can help in developing gene editing methods that may rescue cardiac contractility of failing hearts among Indians with the novel mutations,” said CCMB director Vinay Kumar Nandicoori, said in an official release.

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Printable version | May 28, 2022 12:43:02 am | https://www.thehindu.com/news/cities/Hyderabad/ccmb-team-finds-unique-gene-mutations-causing-heart-disease/article38284303.ece