Men with a higher percentage of blood cells missing Y chromosomes face a greater risk of mortality from a type of heart disease known as transthyretin cardiac amyloidosis (ATTR-CA). This discovery could lead to improved treatment strategies for patients with ATTR-CA.
Researchers from Boston Medical Center (BMC) and Boston University (BU) Chobanian & Avedisian School of Medicine, in collaboration with an international team of scientists, published their findings in the American Heart Association journal, Circulation: Heart Failure. Their study focused on the link between spontaneous loss of the Y chromosome (LOY) in aging men and ATTR-CA, a condition that leads to heart failure and death. Men with a higher proportion of blood cells lacking Y chromosomes were found to have a higher mortality rate from ATTR-CA, offering insights for future treatment approaches. The research team also included experts from Columbia University, University of Virginia, and Osaka Metropolitan Hospital in Japan.
LOY is a common acquired genetic mutation in men, with more than half of men in their early 90s having experienced Y chromosome loss in some of their blood cells according to the National Cancer Institute. While previous studies have linked LOY to heart failure survival rates, its impact on ATTR-CA had not been explored. The recent study revealed that men with ATTR-CA and over 21.6% LOY in their blood cells were 2.6 times more likely to succumb to this form of heart disease.
“Our research indicates that the spontaneous loss of Y chromosomes in white blood cells plays a role in both the development and severity of ATTR-CA in men,” explained Dr. Frederick L. Ruberg, Chief of Cardiovascular Medicine at BMC and lead researcher of the study. “Furthermore, our findings suggest that elevated LOY may explain why some patients do not respond well to traditional ATTR-CA therapies.”
While current treatments for ATTR-CA are effective for many patients, around 30% do not show improvement, leading to hospitalization and death. The study’s results propose that elevated LOY could hinder treatment effectiveness. This insight may help clinicians tailor treatment plans for patients with ATTR-CA and high LOY levels to achieve better health outcomes. Additionally, it could pave the way for new treatments for heart diseases, including ATTR-CA.
“Our international research team uncovered a previously unexplored connection between a common blood disorder and ATTR-CA,” stated Dr. Ruberg. “This evidence suggests a potential relationship between these conditions, offering new insights into the progression of ATTR-CA and potential targets for novel treatments.”
