The researchers used a technique called base editing to correct a mutation in the lamin A gene. At 8 months of age, the heart cross-sections of the treated mice resembled those of normal, healthy mice. Credit: Xurde Caravia
Faulty versions of the LMNA gene can cause a wide range of health problems, including heart muscle disease (dilated cardiomyopathy) and muscle weakness (muscular dystrophies). Many of these diseases are caused by point mutations, which are changes to a “letter” (base) of DNA. Treatments include physiotherapy and lifelong medications, but there is currently no cure. That could change thanks to the work of a team of scientists who developed and successfully tested a gene-editing technique to correct underlying genetic mutations.
Researchers led by Eric Olson of the University of Texas Southwestern Medical Center used a method called base editing, which has been used before to correct other genetic heart diseases, but never before on these specific LMNA mutations. Unlike older editing tools, which create double-strand breaks in DNA, base editing works like a “pencil” and “eraser” to change a single base in a patient’s genome.
In an article published in the Proceedings of the National Academy of Sciencesthe team describes how they used this precise form of gene editing to first correct mutations in human heart muscle cells cultured from patients with LMNA-related diseases.
The researchers used two different base editors. They built an ABE (Adenine Base Editor) to look for R249Q mutations that cause dilated cardiomyopathy and bring it back to the healthy base. For muscle diseases, they created a CBE (Cytosine Base Editor) to correct the specific L35P mutation. The result? The cells have been corrected.
To see if their treatment would work in a living body, the team created mouse models with the same LMNA mutations and delivered the base editors using a harmless virus that targets heart and muscle cells. For mice with heart disease caused by the R249Q mutation, the base editors improved heart function and extended their lives by about 80%. For mice with heart disease caused by the L35P mutation, base editing prevented the development of heart disease.
“Our work represents an important step toward the potential clinical correction of cardiomyopathies using gene editing tools,” the researchers commented in their article.
While this is undoubtedly a significant step forward in curing these genetic diseases, there are still several hurdles to overcome before this treatment can help patients. This includes proving long-term safety to show that there are no unintended DNA changes and ensuring that the body rejects the treatment. But if the research ultimately leads to a therapy, patients could be offered a single injection that would cure their disease and improve their quality of life.
Written for you by our author Paul Arnold, edited by Gaby Clark, and fact-checked and revised by Robert Egan, this article is the result of painstaking human work. We rely on readers like you to keep independent science journalism alive. If this reporting interests you, consider making a donation (especially monthly). You will get a without advertising account as a thank you.
More information:
Xurde M. Caravia et al, Precise gene editing of pathogenic Lamin A mutations corrects heart disease, Proceedings of the National Academy of Sciences (2025). DOI: 10.1073/pnas.2515267122
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