University of Utah Research Examines Why a Rare Genetic Heart Condition Affects Girls and Women Earlier
- Sihem Boudina, PhD, is leading research into PRDM16-related dilated cardiomyopathy, a serious heart condition with few treatment options.
- The NHLBI-supported work examines why girls and women can develop disease earlier and experience worse outcomes.
- The team is creating a global patient registry and studying patient-derived cells to identify possible treatment targets.
For people with 1p36 deletion syndrome and others who carry changes in the PRDM16 gene, a heart condition called dilated cardiomyopathy can lead to a weakened heart muscle and serious heart failure. The disease is especially concerning for girls and women, who can develop heart problems earlier and experience poorer outcomes than boys and men. Yet researchers still do not know why.
Sihem Boudina, PhD, professor in the Department of Nutrition and Integrative Physiology, is working to change that. With approximately $3 million in support from the National Heart, Lung, and Blood Institute, Boudina and her team are investigating the biology behind this sex-specific vulnerability in PRDM16-related heart disease.
The PRDM16 gene plays an important role in heart development and function. When the gene is missing or altered, the heart muscle can become enlarged and weakened, making it harder to pump blood effectively. Although the condition is rare, families affected by it have limited options for treatment and little information about what to expect over time.
Boudina’s team is building a global registry of people with PRDM16 variants to better understand how the condition develops and affects patients across the lifespan. The researchers are also using stem cells derived from patients to recreate aspects of the disease in the lab. This approach allows them to examine how heart cells are affected by PRDM16 changes and to test a promising molecular target that could eventually inform new therapies.
By focusing on why girls and women may be more vulnerable, the research could help move care beyond a one-size-fits-all approach. The findings may also offer broader insight into sex differences in heart disease and support more precise care for women with cardiovascular conditions.
Boudina’s laboratory studies how changes in metabolism and cellular function contribute to cardiovascular disease. Her work explores the roles of mitochondria, oxidative stress and other biological processes in heart health, with the goal of identifying new ways to prevent and treat serious disease.