The incidence of cardiovascular diseases and resultant deaths in India is among the highest in the world. Heart failures are quite common in conditions like severe cardiomyopathy -- one of the several cardiovascular disease. The heart is unable to pump blood normally as this condition changes the integral structure of the heart muscle, leading to cardiac arrest, causing death.

Scientists at the Centre for Cellular and Molecular Biology (CCMB) have found that novel genetic mutations are responsible for this condition.

A team of CCMB scientists, led by K Thangaraj, have found novel genetic mutations in the beta myosin heavy chain gene (β-MYH7) gene are responsible for causing dilated cardiomyopathy among Indians.

This gene is one of the major genes that are found to be causing 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,” K Thangaraj, senior author of this study and presently Director, Centre for DNA Fingerprinting and Diagnostics (CDFD), said.

These findings have been published in the Canadian Journal of Cardiology last week.

“Our study revealed 27 variations, of which 7 mutations were novel, and were detected exclusively in Indian dilated cardiomyopathy patients,” he said.

“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,” Deepa Selvi Rani, the lead author of this study, said.

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

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