A recent discovery by researchers at the University of Maryland could lead to new and improved treatments for Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder that causes accelerated aging in children. The study, published in Aging Cell, identified a protein linked to the cardiovascular health of animal models with progeria that could potentially be used in human treatments. This finding is considered promising by lead author Sahar Vakili, as heart failure and stroke are common causes of death in individuals with HGPS, who typically have a life expectancy between 6 and 20 years old.
HGPS, often referred to as the “Benjamin Button disease,” displays symptoms associated with aging such as skin wrinkling, joint stiffness, and loss of hair and body fat. The disease is caused by a mutation in the LMNA gene, which produces a protein crucial for cell health. To investigate how progeria affects cardiovascular complications, researchers focused on endothelial cells that line the body’s vascular system, including the heart. Dysfunction in these cells can lead to cardiovascular conditions like stroke, blood clots, and atherosclerosis. The team found that the protein Angiopoietin-2 (Ang2), which plays a role in blood vessel formation and flow regulation, is impaired in individuals with progeria, impacting endothelial cell function.
By using Ang2, researchers were able to improve the health of endothelial cells affected by progeria. The treatment enhanced blood vessel formation, normalized cell migration, and restored nitric oxide levels important for a healthy vascular system. Additionally, Ang2 treatment improved signaling to vascular smooth muscle cells, indicating it could be a potential therapy for vascular dysfunctions in HGPS. While current treatments for HGPS can reduce the risk of fatal complications, they do not target the underlying disease. While a definitive cure may not be provided by this research, it could potentially extend the lifespan of affected individuals by improving their overall health.
The lead researcher, Kan Cao, plans to conduct a follow-up study in collaboration with the National Institutes of Health to explore different methods of administering Ang2 to animal models with progeria. Cao, who has been studying progeria since 2005, believes each new study brings researchers closer to identifying a cure for the disease. She is optimistic about the progress being made and believes that research efforts are moving in the right direction towards finding a solution for progeria. The potential benefits of Ang2 treatment extend beyond the cardiovascular system, as blood vessels are essential for transporting nutrients, oxygen, and waste throughout the body.
In conclusion, the discovery of the role of Ang2 in improving endothelial cell health in individuals with progeria could pave the way for new treatments targeting cardiovascular complications in this rare genetic disorder. While there is still much work to be done, researchers are hopeful that their findings will lead to improved therapies for individuals with HGPS and potentially other age-related diseases where endothelial dysfunction plays a role. The ongoing research efforts in this area give hope to individuals and families affected by progeria, as advancements in treatment options continue to be developed.