Chinese researchers have successfully restored vision in mice with retinitis pigmentosa, one of the leading causes of blindness in humans. The study, published March 17 in his Journal of Experimental Medicine, uses a new and highly versatile form of CRISPR-based genome editing to correct genetic mutations that cause a variety of diseases. There is a possibility.
Researchers have previously used genome editing to restore sight in mice with genetic diseases such as Leber’s congenital amaurosis. However, most hereditary blindness, including retinitis pigmentosa, is caused by genetic defects in the nerve photoreceptors themselves.
“The ability to edit the genome of neural retinal cells, particularly unhealthy or dying photoreceptors, provides more compelling evidence for the potential use of these genome-editing tools in the treatment of diseases such as retinitis pigmentosa.” ,” said Professor Kai Yao. Wuhan University of Science and Technology.
Retinitis pigmentosa can be caused by mutations in more than 100 different genes, and it is estimated that 1 in 4,000 people lose their vision. It begins with the dysfunction and death of rod cells, which sense dim light, and spreads to the cone cells required for color vision, ultimately leading to severe, irreversible vision loss.
Yao et al. sought to save the eyesight of mice with retinitis pigmentosa caused by mutations in the gene that encodes a key enzyme called PDE6?. To do this, Yao’s team developed a new, more versatile CRISPR system called PESpRY. The system can be programmed to correct different kinds of genetic mutations wherever they occur in the genome.
When programmed to target mutant PDE6?, the PESpRY system was able to efficiently correct the mutation in the mouse retina and restore the enzyme’s activity. This prevented the death of rod and cone photoreceptors and restored normal electrical responses to light.
Yao et al. performed a variety of behavioral tests to confirm that gene-edited mice maintained their vision even into old age. For example, the animals were able to find their way out of a visually-guided water maze in much the same way as normal healthy mice, exhibiting typical head movements in response to visual stimuli.
Yao warns that much work is still needed to establish both the safety and efficacy of the PESpRY system in humans. “However, our study provides substantial insight into the applicability of this novel genome-editing strategy in vivo and its potential in diverse research and therapeutic settings, particularly for inherited retinal diseases such as retinitis pigmentosa.” It provides a solid piece of evidence,” Yao said.
Original: New gene-editing technology reverses vision loss in mice
Than: Wuhan University of Science and Technology
