A recent discovery by researchers at the University of Maryland offers hope for new treatments for Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disease that causes children to age rapidly.
This disease, sometimes called “Benjamin Button disease,” has no cure and is known for its severe effects on the body, including wrinkles, joint problems, and hair loss.
Most people with HGPS only live between 6 and 20 years, with heart disease and stroke being the leading causes of death.
The study, published in Aging Cell on October 18, 2024, was led by Dr. Kan Cao from the University of Maryland and involved researchers from the National Institutes of Health (NIH) and Duke University.
They discovered a protein, Angiopoietin-2 (Ang2), that plays a crucial role in the cardiovascular health of animal models with progeria.
This finding could lead to new treatments aimed at preventing heart failure and other serious cardiovascular issues in people with HGPS.
Heart problems are a major concern for people with HGPS.
In this study, the research team focused on endothelial cells, which line blood vessels and help control the movement of substances in and out of the bloodstream.
When these cells don’t work properly, it can lead to a range of cardiovascular diseases, including heart disease, stroke, and clogged arteries.
The researchers discovered that Ang2, a protein that helps blood vessels grow and function, is severely reduced in individuals with progeria.
This reduction in Ang2 affects the ability of endothelial cells to function properly, contributing to the cardiovascular problems seen in people with the disease.
However, the team found a way to improve the health of these damaged cells by using Ang2. By restoring Ang2 levels, they were able to boost the formation of new blood vessels, improve cell movement, and restore normal levels of nitric oxide—a vital molecule for maintaining healthy blood flow.
Lead author Sahar Vakili, a Ph.D. student at the University of Maryland, said, “This discovery could lead to new treatments that target the heart issues caused by progeria.
It’s exciting because this might also help other age-related diseases where blood vessel problems are common.”
While there are some treatments for HGPS that reduce the risk of heart attacks and strokes, none of them address the root cause of the disease. Although the Ang2 protein won’t be a cure, it could extend the lives of patients by improving their overall health, particularly their cardiovascular system.
Dr. Kan Cao, who has been studying progeria since 2005, is hopeful about the future. “We are getting closer to a cure for progeria,” she said. “Each new discovery brings us one step closer to understanding how to treat this devastating disease.”
In the next phase of their research, Cao and her team plan to test different ways of delivering Ang2 to animal models of progeria. This could lead to even more promising developments in the fight against premature aging.
