CCMB identifies gene mutation responsible for cardiomyopathy among Indians

Hyderabad: Genetic researchers from Hyderabad-based Centre for Cellular and Molecular Biology (CCMB) led by senior scientist and present Director of city-based Centre for DNA Fingerprinting and Diagnostics (CDFD), Dr K Thangaraj, have found novel genetic mutations that are responsible for cardiomyopathy among Indians. The study has the potential to address the failing hearts of scores […]

Hyderabad: Genetic researchers from Hyderabad-based Centre for Cellular and Molecular Biology (CCMB) led by senior scientist and present Director of city-based Centre for DNA Fingerprinting and Diagnostics (CDFD), Dr K Thangaraj, have found novel genetic mutations that are responsible for cardiomyopathy among Indians. The study has the potential to address the failing hearts of scores of Indians due to cardiomyopathy.

Cardiomyopathy is a progressive disease of the heart muscle that makes it difficult for the heart to pump blood to the entire body, causing breathlessness, and tiredness etc, ultimately leading to heart failure. In severe cardiomyopathy, one of the cardiovascular diseases, heart failures are common. Cardiomyopathy changes the integral structure of the heart muscle, and as a result, the heart is unable to pump blood efficiently.

The CCMB researchers in a statement here on Monday said that they have found novel genetic mutations in the beta myosin heavy chain gene (β-MYH7) gene that are responsible for causing dilated cardiomyopathy among Indians. The novel findings were published in the Canadian Journal of Cardiology on January 14, 2022.

“The β-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 β-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”, Dr. Thangaraj, said.

The CCMB study revealed 27 variations, of which 7 mutations i.e. 8 per cent were novel, and were detected exclusively in Indian dilated cardiomyopathy patients. These included 4 missense mutations; each altered evolutionarily conserved amino acids in the β-MYH7 protein, and were predicted to be pathogenic by bioinformatics tools, CCMB statement said.

“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.

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

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