A landmark study from Bengaluru has uncovered a unique genetic basis for a serious heart condition in people of South Indian origin, challenging long-held medical assumptions based primarily on Western data. Researchers at the Institute for Stem Cell Science and Regenerative Medicine (inStem) have identified a distinct genetic signature for Hypertrophic Cardiomyopathy (HCM) in this population.
Core Findings: A Different Genetic Landscape
The research, published in the Journal of the American Heart Association, involved a detailed genetic analysis of 335 primary HCM patients from South India. HCM is a dangerous condition where the heart muscle thickens, often leading to heart failure or sudden cardiac death.
The analysis revealed two critical and surprising differences. First, the South Indian patients showed significantly fewer mutations in the two genes—MYBPC3 and MYH7—that are most commonly linked to HCM globally. Second, they exhibited a greater variety of mutations in other genes, including MYH6, which were previously considered less significant in causing the disease.
Implications for Diagnosis and Screening
This discovery fundamentally shifts the understanding of HCM's causes in India. It means that relying on genetic data from European or American cohorts could lead to missed diagnoses for Indian patients.
Dr. Perundurai S Dhandapany, Associate Professor at BRIC-inStem and the study's corresponding author, emphasized the importance of the findings. He stated that this opens the door to studying other genetic conditions where Indians may have unique signatures and enables the creation of a better, more inclusive screening program for sudden cardiac deaths.
Paving the Way for Personalized Medicine in India
The research has profound implications for the future of cardiac care across the country. By understanding these population-specific mutations, clinicians can now work towards more accurate risk assessment for sudden cardiac events. This allows for more precise treatment and preventive measures tailored to Indian patients.
The study underscores an urgent need for comprehensive genetic screening programs in India, especially for young adults who might be at risk due to these regional genetic variations. It is poised to be a game-changer for personalized medicine, paving the way for diagnostic tools and treatments based on ethnicity-specific genetic markers.
Dr. Dhandapany concluded that identifying these unique mutations will help clinicians develop targeted tests and therapies for South Indian patients, ultimately leading to earlier detection and significantly better health outcomes.
