Heart disease is a prevalent health concern, especially among older men. Researchers at Boston Medical Center (BMC) and Boston University (BU) Chobanian & Avedisian School of Medicine, along with an international team of scientists, have recently published a groundbreaking study in the American Heart Association journal, Circulation: Heart Failure, shedding light on a common cause of heart disease in older men known as transthyretin cardiac amyloidosis (ATTR-CA). This progressive disease can lead to heart failure and death, making it crucial to understand potential risk factors and treatment options.
The study focused on the relationship between spontaneous loss of the Y chromosome (LOY) and ATTR-CA. LOY is a common acquired genetic mutation in aging men, where the Y chromosome is spontaneously deleted in blood cells. It is estimated that more than half of men in their early 90s have experienced LOY to some extent, according to the National Cancer Institute. While previous research has linked LOY to heart failure survival rates, its connection to ATTR-CA had not been explored until now.
The findings of the study were significant, suggesting that men with a higher proportion of blood cells missing the Y chromosome are at a greater risk of mortality from ATTR-CA. Specifically, men with greater than 21.6% LOY in their blood cells were 2.6 times more likely to not survive this form of heart disease. This insight provides valuable information for future treatment strategies for patients with ATTR-CA, potentially guiding clinicians in developing personalized treatment plans for better outcomes.
Lead researcher Dr. Frederick L. Ruberg, Chief of Cardiovascular Medicine at BMC and Professor of Medicine at BU Chobanian & Avedisian School of Medicine, emphasized the study’s implications for current treatment approaches. While existing treatments for ATTR-CA have shown success in many patients, approximately 30% do not respond to treatment, leading to hospitalization and death. The study’s findings suggest that elevated LOY may be a contributing factor to this lack of response, highlighting the need for further research and potential new treatments targeting this genetic mutation.
The collaborative nature of the study, involving researchers from Columbia University, University of Virginia, and Osaka Metropolitan Hospital in Japan, underscores the global effort to better understand and address heart disease. By uncovering the link between LOY and ATTR-CA, the study opens up new avenues for research and treatment development in the field of cardiovascular medicine.
Overall, this groundbreaking study provides a deeper understanding of the factors contributing to heart disease in older men and offers hope for improved treatment outcomes for patients with ATTR-CA. The findings highlight the importance of personalized medicine and the potential for targeted therapies based on individual genetic profiles. As researchers continue to delve into the complexities of heart disease, new discoveries such as these pave the way for innovative approaches to treatment and ultimately, better health outcomes for patients.
