CCMB scientists identify rare gene mutations linked to inherited heart disease
Researchers found two significant genetic variants in the MYH7 gene that may impair heart muscle contraction in patients with Hypertrophic Cardio-Myopathy.
Scientists from the CSIR-Centre for Cellular and Molecular Biology (CCMB) have identified two rare genetic mutations associated with Hypertrophic Cardio-Myopathy (HCM), according to The Hindu.
The research was conducted in collaboration with Osmania University (OU) and AIG Hospitals. The team analysed the MYH7 gene in 160 HCM patients and 178 healthy individuals from Telangana.
The study, led by Deepa Selvi Rani, Kumarasamy Thangaraj, Pratibha Nallari, and Dr Calambur Narasimhan, identified 34 genetic variants. Two specific mutations in critical myosin protein regions were found to be particularly significant.
One mutation was detected in a 52-year-old woman experiencing severe thickening of the heart muscle and her 26-year-old son, who had milder symptoms. A second mutation was found in a 58-year-old man with obstructive HCM and his 24-year-old daughter, who showed slight heart muscle thickening.
Dr Thangaraj stated that both variants were classified as “likely pathogenic” due to clinical, genetic, and structural evidence. He noted these variants were not present in healthy individuals or global databases, suggesting they may be more common in Indian or South Asian populations.
CCMB Director Vinay Nandicoori said the study could support precision diagnosis and population screening. The findings were published in the Journal of the American College of Cardiology: Asia.