It’s been nearly seven years since researchers used the CRISPER gene-editing system to reverse a blinding condition called retinitis pigmentosa in ex vivo stem cells. Now, using a more sophisticated version of CRISPR, another research team has restored vision in a live animal model suffering from the condition. This result could open the door to treating her 1 patient in 5,000.
The CRISPR process allows scientists to precisely cut genes from DNA strands using an enzyme called Cas9. Once cleavage is complete, genes can be altered, replaced, or deleted. The technology has been used for everything from shortening the flowering time of trees to fighting cancer. It was also previously used to treat retinitis pigmentosa in rats by turning off a mutated gene that causes loss of photoreceptors in the eye.
Now researchers at Wuhan University of Science and Technology in China have refined the CRISPR tool into a system called PESpRY. They used it to correct the causatively mutated gene that encodes an enzyme called PDE6β.
Once the mutation was repaired, the gene reverted to encoding the enzyme. This action prevented the death of rod and cone cells, the process by which retinitis pigmentosa leads to blindness. After the enzyme was properly produced again, the mice regained their sight, as confirmed by successful head rotation tests and visually guided water maze puzzles. remains even in old age.
Cai Yao, who led the study, said that to ensure PESpRY remains effective in other tests and is a safe technology for future use, CRISPR was recently validated. said more research was needed.
“However, our study provides substantial insight into the in vivo applicability of this novel genome-editing strategy and its potential in diverse research and therapeutic settings, particularly for hereditary retinal diseases such as retinitis pigmentosa.” We provide proof,” he added.
Retinitis pigmentosa affects only about 1 in 5,000 people worldwide, yet it is the most common genetic disease of the retina, so research is underway for treatments across multiple modalities.
Current research Journal of Experimental Medicinea peer-reviewed publication.
Source: Rockefeller University Press via EurekAlert
