In a significant finding that could help in preventing sudden cardiac death in individuals susceptible for such an adverse event, scientists have found a novel genetic mutation responsible for such a fatality.
With cardiac ailments increasing in Indian population, it has been estimated that about 30 million people are suffering from such diseases and nearly 50 per cent of the sudden deaths occur below the age of 65 years as against 22 per cent in Western countries, indicating that genetic factors play a major role besides lifestyle changes.
Cardiomyopathy, a disease of heart muscle, is classified into three major types — dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathies. Dilated cardiomyopathy is a condition in which the main pumping chamber (left ventricle) of the heart becomes enlarged and weak, diminishing the ability of heart to pump blood. This condition affects at least 1 in 2,500 individuals, and is an important cause of heart failure and sudden cardiac death.
In a study, Centre for Cellular Molecular Biology (CCMB) scientists in collaboration with researchers from CARE hospital and Osmania University have found that gene mutation is responsible for heart failure in dilated cardiomyopathy. Their findings were published in Plos One journal recently.
Dr. K. Thangaraj, senior author of this study and Senior Principal Scientist at CCMB said that they had analysed Troponin T (cTnT) gene from the DNA of 147 individuals with dilated cardiomyopathy along with 207 healthy individuals. He said they identified a novel genetic mutation (R144W) as responsible for dilated cardiomyopathy and sudden death. The study aimed to investigate the genetic variations in Troponin T gene and its association with dilated cardiomyopathy in south Indian patients.
He said the mutated gene was found in four members in the family, who were suffering from the heart disease.
Since the analysis was done in a limited, hospital-based study, the CCMB scientists now plan to undertake a larger population-based study. He said that detection of the mutation through early screening could lead to medical treatment to prevent sudden cardiac death.
Dr. Deepa Selva Rani, of one of the authors of the study, said that some more variants of the gene were identified but their roles were yet to be understood.
Dr. Ch. Mohan Rao, Director, CCMB, said this kind of study would help in saving lives of individuals who were at high risk for sudden cardiac death by treating them at an early age.
