动物造模 z-bio 2022-12-28 497

　　The British journal "Nature Communications" published an important genetic research result. A genome editing method can prevent retinal degeneration in mice, thereby saving blind mice. The method described utilizes the CRISPR/Cas9 gene therapy system and can be applied to a variety of underlying genetic defects that lead to retinitis pigmentosa, the leading cause of blindness.

　　Retinitis pigmentosa is incurable, difficult to detect, causes great harm to the patient's eyes, and is hereditary. The disease is characterized by retinal degeneration, but because retinitis pigmentosa can be caused by mutations in more than 60 genes, it is very difficult to develop targeted therapies to fix each specific gene.

　　The retina includes rods and cones, and the gene mutation that causes retinitis pigmentosa first causes the death of the rods, then the cones, and eventually the blindness of the patient.

　　Rather than treating the disease that causes the genetic mutation, Zhijian Wu, a researcher at the National Eye Institute, and his colleagues tested a way to preserve cone cells. They used the hottest "star" technology in biomedicine, the CRISPR/Cas9 system, to disable the genes that determine the identity of rods, inducing rods to acquire cone characteristics that make them immune to harmful disease effects of mutations.

　　Experimental results showed that the therapy prevented retinal degeneration and improved vision in three mouse models of retinal degeneration (30 mice in total).

　　This study suggests that the approach may be suitable for treating retinal degenerative diseases and may be broadly applicable, independent of different underlying genetic mutations.