Are South Indians at higher risk of heart disease? New inStem study reveals unique genetic signature

The Institute for Stem Cell Science and Regenerative Medicine (inStem) in Bengaluru recently published groundbreaking research in the Journal of the American Heart Association, revealing a unique genetic signature for Hypertrophic Cardiomyopathy (HCM) among people of South Indian origin.

HCM is a serious condition characterized by the thickening of the heart muscle, often leading to heart failure or sudden cardiac death, as reported by Deccan Herald.

Core discovery

The study, which performed detailed genetic analysis on a cohort of 335 primary HCM patients from South India, found that the genetic landscape of this population is markedly different from that seen in European and American cohorts.

Fewer Common Mutations: The South Indian patients exhibited significantly fewer mutations in the two genes most commonly associated with HCM globally - (MYBPC3 and MYH7).

Increased Variation in Other Genes: Indian patients showed a greater variation in other genes including Mi Hb, which were previously considered less important.

Dr Perundurai S Dhandapany, Associate Professor at BRIC-inStem and the corresponding author of the paper, said: “It opens the door to study other genetic conditions where Indians have unique genetic signatures and enables a better, inclusive screening programme for sudden cardiac deaths.”

Research implications

This unexpected genetic profile challenges long-held, Western-centric assumptions about HCM aetiology and has profound implications for the future of cardiac care in India.

The findings underscore the critical importance of conducting cardiovascular medicine research tailored to India's diverse populations, moving away from reliance on global, non-Indian genetic data.

Diagnosis and risk stratification

By understanding these unique mutations, clinicians can more accurately diagnose the risk for sudden cardiac events, allowing for more precise treatment and prophylactic measures.

The discovery emphasizes the urgent need for comprehensive genetic screening, particularly for young adults, who may be at risk for sudden cardiac death due to these regional genetic variations.

This research is poised to be a game-changer for personalized medicine in India, paving the way for targeted diagnostic tools and treatments based on ethnicity-specific genetic markers.

By identifying these unique genetic mutations, clinicians can now develop targeted diagnostic tests and treatments for South Indian patients, leading to earlier detection and better clinical outcomes, said Dr Perundurai S Dhandapany.