By Anna Jones | UAB News
A large nationwide study by researchers at UAB found that Black individuals carrying a genetic mutation in the TTN gene were at an increased risk of adverse clinical outcomes. Physician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine led a nationwide genetic study examining the role of genetic mutations in the Titin, TTN, gene in Black individuals. In the Nature Cardiovascular Research study, they found that Black individuals carrying these genetic variants were at a high risk of developing atrial fibrillation and heart failure.
“Titin is an essential protein that is required for the contraction and relaxation of the heart,” said Naman S. Shetty, M.D., a research fellow in the UAB Division of Cardiovascular Disease and first author.
Shetty explains the TTN gene, encoding the Titin protein, is one of the largest genes in humans.
“The sheer size of the gene makes it prone to genetic mutations,” Shetty said. “However, not all mutations in the Titin gene cause disease. A specific subset of mutations known as high-proportion splice-in (hiPSI) Titin truncating variants (TTNtvs) have been found to increase the risk of diseases such as atrial fibrillation and heart failure....
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