Researchers from Duke University have used the CRISPR technology to cure Duchenne muscular dystrophy in a mouse. It is the first time that the gene editing technology is successfully used to treat an adult mammalian. The study, published in the journal Science, establishes CRISPR/Cas9 as a potential therapy for the treatment of muscular dystrophy in humans.
Duchenne muscular dystrophy (DMD) is an inherited disorder caused by mutations in the dystrophin gene, which codes for a muscle protein. It affects 1 of every 3600 male births, causing them fatigue, muscle weakness and intellectual disability. The CRISPR technology, heralded as the scientific breakthrough of 2015, allows accurate gene editing on eukaryotic cells. Duke researchers had previously used CRISPR in vitro to edit the mutations in cells from Duchenne patients. Other researchers had eliminated the mutations from single-cell embryos, also in vitro. These approaches involve ethical and practical issues that make them currently unsuitable for DMD treatment in humans. For example, inserting the CRISPR system in the cells by electroporation -poking holes in the cell membrane using electricity- works in vitro, but not in vivo. In an alternative method for DMD treatment, gene therapy, there are also problems to deliver the genes to the cells.
Using an adeno-associated virus and a smaller endonuclease
The main problem when using gene editing technologies is delivering them to the cells. Dr.
In the future, the Duke researchers plan to optimize the system delivery, test its efficiency on severe cases of DMD, and conduct trials in bigger mammals, eventually including humans.