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24 September 2025
Closer to a cure for an “incurable” disease
Multisystem smooth muscle dysfunction syndrome (MSMDS) is a sentence for parents. The disease leads to strokes, aortic dissection and, in many cases, simply death in childhood. It stems from a single error in the ACTA2 gene, which encodes smooth muscle actin. Until now, MSMDS had no cure. But the latest experiment, reported in Nature Biomedical Engineering, opens a new chapter in the search for an effective way to treat smooth muscle dysfunction.
“The story of this research really began at the patient’s bedside,” says Dr. Patricia Musolino of Massachusetts General Hospital. “An infant in critical condition first brought our team together — spanning clinical, genetic, biological and therapeutic expertise in this disease,” she adds. So what exactly is the method the research team developed?
You might like to read: Viruses in our DNA: can we switch them off?
Toward more effective muscle dysfunction treatment
Can we reprogram nature? Physicians at Mass General Brigham set out to try. They used CRISPR technology re-engineered for MSMDS. It relies on binding CRISPR-Cas9 and a dedicated enzyme to a specific DNA strand and making a cut. The first problem? Standard CRISPR tools, while correcting the mutation, also damaged nearby regions of the genome. That flaw had to be eliminated.
The team led by Dr. Benjamin Kleinstiver tested dozens of system variants until they created a finely tuned base editor — a protein tool that modulates the genome with high specificity. The result? One injection extended the lifespan of MSMDS mice by 4 times.
From lab bench to hospital
“Our laboratory has advanced the design of base editors to make them safer, more effective and more precise — and therefore better suited to treating genetic disease,” Kleinstiver told Medical Xpress. The biggest challenge, however, was delivering the therapy to the right place. MSMDS targets blood vessels, so the treatment has to go exactly there. Dr. Casey Maguire designed a specialised viral vector that homes to the smooth muscle lining of vessels.
The researchers are already in talks with the U.S. Food and Drug Administration (FDA) — a first step toward human clinical trials. And this is only the beginning. The same technology could aid in treating other conditions: Marfan syndrome, moyamoya disease, and even atherosclerosis — the world’s leading cause of death.
“The impact of this work extends beyond a single disease,” says Dr. Mark Lindsay of the Mass General Brigham Heart and Vascular Institute. “Our team has built tools that have accelerated the science of genome editing and precision therapies to levels that were unthinkable just two years ago.” Are we witnessing the dawn of a new era in medicine — one where rewriting the genetic code becomes as routine as writing a prescription — and where muscle dysfunction treatment moves from hope to standard care?
Read this article in Polish: Dzieci umierały przez błąd w DNA. Teraz pojawiła się nadzieja
