HYDERABAD: A team of scientists at the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, led by led by Dr K Thangaraj, Director, Centre for DNA Fingerprinting and Diagnostics (CDFD), has found novel genetic mutations in the beta myosin heavy chain gene (b-MYH7) responsible for causing dilated cardiomyopathy (a condition in which the heart muscle becomes weakened and enlarged) among Indians. This finding was published in the Canadian Journal of Cardiology on Jan 14. This mutation in genes of most Indians is what is leading to a higher death rate due to cardiovascular diseases. The research is crucial as a gene-editing method could be developed to lower risk.
The b-MYH7 is one of the major genes implicated in cardiac diseases globally. “Till now, not many genetic studies were carried out in Indian cardiomyopathy patients. Hence, we sequenced b-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 K Thangaraj, senior author of this study.
In the study, it was found that of the 137 dilated cardiomyopathy patients, there were 27 variations and seven were novel. “Our study revealed 27 variations, of which seven mutations (8 per cent) were novel, and were detected exclusively in Indian dilated cardiomyopathy patients. These included four missense mutations. In a subsequent study using homology models of b-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,” said Dr Deepa Selvi Rani, the lead author of this study.
The study is crucial because the mortality rate due to cardiovascular diseases is very high in India, compared to western countries. 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, increasing the risk of heart failure.