NEWS

• A groundbreaking study by the Institute for Stem Cell Science and Regenerative Medicine (inStem), Bengaluru, has identified a single gene mutation that may be responsible for sudden heart attacks in young individuals.
• The research focuses on cardiomyopathy, a condition where the left ventricle of the heart thickens, disrupting normal heart rhythms and potentially leading to sudden cardiac death.

HIGHLIGHTS

Gene Identified

• The team, led by Dr. Dhandapany Perundurai, conducted a comprehensive screening of 20,000 to 25,000 genes in Indian patients diagnosed with primary cardiomyopathy.
• The mutation was found in the TTL (Tubulin Tyrosine Ligase) gene.
• The specific mutation involved the substitution of the amino acid glycine with serine, resulting in abnormal TTL protein formation and irregular heartbeats.

Experimental Process

• Researchers used blood samples from affected individuals to develop 2D stem cell cultures.
• These stem cells were differentiated into beating heart cells, allowing real-time observation of the mutation’s effect.
• The mutated cells displayed irregular beating patterns, confirming the causal link to cardiomyopathy.

Causes & Risk Factors

• The mutation may arise due to:
  • Hereditary genetic transmission
  • Environmental triggers such as pollution and UV exposure
  • Excessive physical exertion
• Often, the condition is heritable and remains undetected without proactive genetic testing.

Prevention & Recommendations

• Periodic genetic screening every five years is recommended, particularly for individuals with a family history of heart disease.
• Advances in personalized medicine allow for customized drug therapy based on specific gene mutation profiles.

Significance of the Study

• This research is crucial for early detection and prevention of sudden cardiac events, especially in younger populations.
• It underscores the importance of genomic medicine in managing hereditary cardiovascular diseases in India.