Rare Gene Mutations Tied to Inherited Heart Disease Found by CCMB Team

Two rare genetic mutations that cause hypertrophic cardiomyopathy (HCM) have been identified by scientists at the CSIR‑Centre for Cellular and Molecular Biology (CCMB) in partnership with Osmania University and AIG Hospitals. The team, led by Deepa Selvi Rani and Kumarasamy Thangaraj, examined the MYH7 gene in 160 HCM patients and 178 healthy volunteers from Telangana. Out of 34 genetic variants detected, two mutations in critical regions of the beta‑myosin heavy chain protein were deemed "likely pathogenic" after clinical, genetic and structural analysis. The first mutation appeared in a 52‑year‑old woman with severe heart‑muscle thickening and her 26‑year‑old son, who showed milder symptoms. The second mutation was found in a 58‑year‑old man with obstructive HCM and a family history of sudden cardiac death, as well as his 24‑year‑old daughter, who had mild thickening. Both variants were absent in the healthy group and not listed in major global population databases, suggesting they may be enriched in Indian or South Asian groups. CCMB Director Vinay Nandicoori said the discovery strengthens understanding of inherited cardiovascular diseases and could enable precision diagnosis and population‑wide screening. The findings were published in the Journal of the American College of Cardiology: Asia and may lead to earlier detection, targeted treatment and family‑based screening for HCM.

Context

Heart disease is the top cause of death worldwide and HCM is a serious inherited form that can cause breathlessness, chest pain, irregular rhythms and sudden death. Identifying rare, disease‑causing mutations helps doctors spot at‑risk relatives before symptoms appear, improving chances of timely care.