In a study from UT Southwestern, scientists found with the CRISPR-Cas9 gene editing system, they could correct mutations responsible for a common inherited heart condition called dilated cardiomyopathy (DCM) in human cells and a mouse model of the disease.
Their findings may one day provide hope to an estimated 1 in 250 people worldwide who suffer from this condition.
DCM is caused by mutations in a gene known as RNA binding motif protein 20 (RBM20), which affects the production of hundreds of proteins in cardiac muscle cells responsible for the heart’s pumping action.
This disease wreaks widespread havoc throughout the heart, gradually destroying its ability to contract and causing it to become extremely enlarged and fail over time.
Treatment is limited to drugs, which can improve contractile function but don’t provide a permanent fix, or a heart transplant, which frequently isn’t an option due to a shortage of donor organs.
In the study, the team the team used CRISPR-Cas9, a popular tool for genetic research. Using this system, researchers can potentially correct disease-causing mutations in important genes.
To determine the feasibility of this approach for DCM, the research team used a virus to deliver CRISPR-Cas9 components to cardiac muscle cells derived from human cells carrying two different types of DCM-causing mutations.
Scientists used this gene-editing technology to swap a single nucleotide, the basic unit of DNA, to correct one type of mutation.
In another set of cells, researchers replaced a piece of DNA from mutated RBM20 with a healthy segment of this gene.
After CRISPR-Cas9 treatment, the mutant cells gradually lost characteristics inherent to DCM: The protein produced by RBM20 moved to its normal place in the nucleus, and the cells began making healthy proteins.
When the researchers delivered the CRISPR-Cas9 treatment to 1-week-old mice carrying one of these mutations, the animals never developed enlarged hearts and had normal life spans.
Untreated mice had symptoms mirroring those of human DCM patients.
The scientists said that several challenges remain before this therapy can be used in DCM patients.
Work is needed to ensure that the effects of CRISPR-Cas9 are permanent and precise and that the smallest dose possible is delivered. Also to be determined is whether the treatment could be used in patients whose disease is more advanced.
However, they are optimistic that this system could be used to treat a variety of other familial diseases.
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The study was conducted by Eric Olson et al and published in Science Translational Medicine.
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