N.B. Nair
New Delhi (ISJ): An Indian lab identified the genetic mutations that cause dilated cardiomyopathy, a common cardiovascular disease that often results in heart failure. Cardiomyopathy is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body, leading to heart failure.
There are many types of cardiomyopathies, while dilated cardiomyopathy is the most common. A team of scientists at the Hyderabad-based CSIR-Centre for Cellular and Molecular Biology (CCMB), has identified the genetic mutations that cause dilated cardiomyopathy.
The gene called β-MYH7 is one of the major genes implicated in cardiac diseases globally. However, not many genetic studies have been carried out on Indian cardiomyopathy patients. In the new study, the researchers chose to fill the gap by sequencing the β-MYH7 gene from 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.
The study revealed 27 variations, of which seven were novel and were detected exclusively in Indian dilated cardiomyopathy patients. These included four, called missense mutations. They were predicted to be pathogenic by bioinformatics tools.
Subsequent studies using homology models of β-MYH7 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.
Protein molecules are made up of amino acids and each of them has a specific set of 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.
“This study can help in developing gene editing methods that may rescue cardiac contractility of failing hearts among Indians with the novel mutations”, said Dr Vinay Kumar Nandicoori, Director of CCMB.
The finding has been published in the Canadian Journal of Cardiology.
Cardiovascular diseases (CVDs) were responsible for an estimated 17.9 million deaths in 2016 representing 31 percent of all global deaths. Of these deaths, 85 percent were due to heart attack and stroke.
India reported 63 percent of total deaths in 2016 due to Non-Communicable Diseases, of which 27 percent were attributed to CVDs, according to the World Health Organisation. CVDs also account for 45 percent of deaths in the 40–69-year age group.
Source: India Science Wire
Image: Representational
