Researchers at Brigham and Women’s Hospital and Duke University showed that a genetic variant, present in 3-4% of self-identified Black individuals in the U.S., increases the risk for both heart failure and death and contributes to significant decreases in longevity at the population level.
May 11 2024Brigham and Women’s Hospital
The V142I variant causes transthyretin, a protein in the blood, to misfold leading to deposits of abnormal amyloid protein in the heart and other parts of the body. In the heart, these deposits cause the muscle to become thick and stiffened, a condition known as cardiac amyloidosis, which can ultimately lead to heart failure.
They showed that V142I increased the risk for heart failure hospitalization by age 63 and the risk of death by age 72. The variant’s contribution to heart failure risk increased substantially with age but was not itself increased by other known risk factors such as diabetes and hypertension. The team also showed that female and male carriers of the variant were equally at risk, contrary to some previous studies showing that men were more affected.
Heart Heart Failure Amyloidosis Gene Healthcare Hospital Medicine Protein Research
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