In  a pioneering study led by researchers from Maryland University (UMD) said that they have found a protein that could pave the way for improved treatments for Hutchinson-Gilford Progeria Syndrome (HGPS), an extremely rare genetic condition that causes rapid ageing in children. The study, which was recently published in Ageing Cell, found that a protein called Angiopoietin-2 (Ang2) is important for the heart health of animal models of progeria. This gives us new hope for developing treatments for people.

HGPS, often known as "Benjamin Button disease," causes youngsters to age quickly, with symptoms such as hair loss, joint stiffness, and cardiovascular issues. These cardiovascular difficulties are the major cause of death among progeria patients, who normally live for 6 to 20 years. A mutation in the LMNA (lamin A) gene, crucial for cellular health, causes the illness.

Dr. Kan Cao, a Cell Biology and Molecular Genetics professor at UMD, led the study in partnership with scientists from the National Institutes of Health (NIH) and Duke University. According to the study's primary author, Ph.D. student Sahar Vakili, the finding of Ang2's significance in endothelial cells—the cells that line blood vessels—is a milestone. "This could pave the way for new treatments targeting cardiovascular complications in HGPS, which are currently a major cause of mortality in the affected children," Vakili told reporters.

Endothelial cells play a key role in regulating the body's vascular system, controlling what enters and exits the bloodstream. Dysfunction of these cells causes cardiovascular disorders such as stroke, blood clots, and atherosclerosis, which is especially damaging in progeria patients. For the first time, the UMD-led research discovered that Ang2—a protein involved in the formation of new blood vessels—is critical for endothelial cell health. Progeria patients have poor Ang2 expression, which leads to cardiovascular problems.

The study found that adding Ang2 can "rescue" damaged endothelial cells. This restoration of function promotes blood vessel creation, cell migration, and nitric oxide production, all of which are essential for maintaining a healthy cardiovascular system. "Ang2 treatment also improves endothelial cell signalling to vascular smooth muscle cells, suggesting it could be a potential therapy for vascular dysfunction in HGPS," according to Vakili.

While current HGPS treatments focus on preventing fatal consequences such as heart attacks and strokes, they do not address the underlying cause of the condition. The use of Ang2 to improve endothelial function may represent a revolutionary method that not only extends patients' lives but also improves their overall health. However, Cao cautions against presenting the findings as a cure: "While Ang2 only has receptors on endothelial cells, it may have a broader beneficial impact on additional tissue types beyond cardiovascular systems, such as bone and fat tissues."

This finding opens up new avenues for further investigation. Cao intends to work with the NIH to investigate various methods of administering Ang2 to animal models with progeria. This research could offer further insights into the potential efficient use of the protein in human therapeutics. "We are getting really close to a cure for progeria," Cao said. "We are making significant progress in our research, and I am optimistic about the future."