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The Institute for Stem Cell Science and Regenerative Medicine (InStem) in Bengaluru has recently published groundbreaking research Journal of the American Heart AssociationRevealing a unique genetic signature for hypertrophic cardiomyopathy (HCM) among people of South Indian origin.
HCM is a serious condition characterized by the thickening of cardiac muscleAs reported, often leading to heart failure or sudden cardiac death Deccan Herald,
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The study, which conducted detailed genetic analysis on a cohort of 335 primary HCM patients from South India, found that the genetic landscape of this population differed markedly from European and American groups.
less common mutation: South Indian patients displayed significantly fewer mutations in the two genes most associated with HCM globally – (MYBPC3 and MYH7),
Increase in variation in other genes, Indian patients with MI showed greater variation in other genes, including HB, which were previously thought to be less important.
Dr Perundurai S Dhandapani, Associate Professor at BRIC-InStem and corresponding author of the paper, said: “This opens the door to studying other genetic conditions where Indians have unique genetic signatures and enables a better, inclusive screening program for sudden. cardiovascular deaths,
Research Implications
This unexpected genetic profile challenges long-held, Western-centric assumptions about HCM etiology and has profound implications for the future of cardiovascular care in India.
The findings underline the critical importance of tailoring cardiovascular medical research to India’s diverse population, moving away from reliance on global, non-Indian genetic data.
Diagnosis and risk stratification
By understanding these unique mutations, physicians can more accurately diagnose the risk of sudden cardiovascular events, leading to more precise treatment and prophylactic measures.
This finding emphasizes the urgent need for comprehensive genetic screening, especially 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, physicians can now develop targeted diagnostic tests and treatments for South Indian patients, leading to earlier detection and better clinical outcomes, said Dr. Perundurai S Dhandapani.
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