Scientists have made an exciting breakthrough that could one day cure serious genetic diseases that affect the heart and muscles.
These diseases are caused by harmful changes (mutations) in a gene called LMNA. Right now, people with these conditions can only manage their symptoms with physical therapy and long-term medication. There are no cures—yet.
A team led by Dr. Eric Olson at the University of Texas Southwestern Medical Center has found a new way to fix these LMNA mutations using a gene editing technique called base editing. This method works like a pencil and eraser, changing just one letter in the DNA without cutting the whole strand—making it much safer than older editing tools.
In the study, published in the journal Proceedings of the National Academy of Sciences, the researchers corrected LMNA mutations in heart muscle cells taken from patients.
They used two different tools: one called an ABE (Adenine Base Editor) to fix the R249Q mutation, which causes heart disease, and another called a CBE (Cytosine Base Editor) to fix the L35P mutation, which causes muscle weakness. Both tools successfully repaired the faulty DNA in lab-grown cells.
The team then tested this treatment in mice with the same LMNA mutations. They used a harmless virus to deliver the base editors directly into heart and muscle tissues.
In mice with the R249Q mutation, the treatment greatly improved heart function and helped the mice live about 80% longer. In mice with the L35P mutation, the treatment completely prevented the heart disease from developing.
“This is a big step toward using gene editing to treat genetic heart problems,” the researchers said.
Even though the results are promising, more studies are needed before this treatment can be used in people. Scientists must make sure it’s safe, doesn’t cause unwanted changes in the DNA, and won’t be rejected by the body’s immune system.
Still, the hope is that in the future, patients could get a one-time injection that would cure their disease, giving them a healthier and longer life.
If you care about heart health, please read studies that vitamin K helps cut heart disease risk by a third, and a year of exercise reversed worrisome heart failure.
For more health information, please see recent studies about supplements that could help prevent heart disease, stroke, and results showing this food ingredient may strongly increase heart disease death risk.
The study is published in PNAS.
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