In recent years, even individuals below the age of 40 suffer from cardiac failure. Blame genes, says a major new cross-institutional research study.
Over a four-year-period, researchers from Institute for Stem Cell Science and Regenerative Medicine (inStem), Sri Jayadeva Institute of Cardiovascular Sciences and Research and the Indian Institute of Science (IISc), plus others in Hyderabad and the United States studied 2,552 heart patients (mostly from Bengaluru) with and without diabetes.
To their surprise, they found a proportion of these who had been registered with Jayadeva Hospital for cardiological problems, had mutations in a key metabolism-related gene which was preventing the proper regulation of glucose metabolism, while also showing increased cell size and enhanced genetic markers associated with the thickening of heart walls.
Furthermore, the mutations in the so-called “Adiponectin receptor protein 1” gene were also disturbing the normal molecular signaling mechanisms which are essential to the routine functioning of cardiac cells.
According to Assistant Professor Dhandapany Perundurai of the Centre for Cardiovascular Biology and Disease, inStem, corresponding author of the research paper, recent epidemiological and clinical studies had suggested that about 10% of people with cardiomyopathy also had diabetes.
“But the genetic link underlying this disease was less understood,” Dr Perundurai said.
The new research, he explained, points to the first evidence for a shared genetic link between cardiomyopathy and metabolic syndrome among South Asians. “These mutations are primarily found within south Asian populations and some are inherited through family members and some acquired at a certain stage of a person’s life. The cause of the original mutation could be pollution, chemicals or UV rays,” Dr Perundurai said.
He added that finding the genetic link could now be used as a basis for simple genetic tests to identify the individuals who are highly susceptible to cardiac muscle disorder. Dr Jayaprakash Shenthar, a cardiologist from Jayadeva, said that the findings show the “importance and the need of routine clinical genetic practice in India.”
More than that, “early diagnosis of the ‘at-risk’ population will help us to prescribe appropriate preventive health plans to subdue the harmful effects associated with this disease,” Dr Perundurai added.
The study was published in Science Advances.
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