Retinitis pigmentosa is one of the main causes of blindness. At present, there is no effective treatment in clinical practice. Patients often experience night blindness, reduced visual field, and ultimately loss of vision, which seriously affects the quality of life.
Recently, the research team of Dr. Zhu Jie, deputy director of the Department of Ophthalmology of Zhujiang New City Campus of Guangzhou Women and Children Medical Center, published a breakthrough scientific research. They can effectively prevent retinal cell degeneration and preserve retinal tissue sensitization by genetically editing the visual cells. Function, is expected to help patients with retinitis pigmentosa to get rid of the shadow of blindness.
Rod cells are more prone to lesions
Zhu Jie introduced that retinitis pigmentosa is a common blinding eye disease, which is more common in East Asian populations, and one in 4000-5000 people in China. Due to the loss of photoreceptor cells and pigment epithelial function, the patient will experience night blindness, the visual field will gradually shrink and disappear, and eventually lose vision. Often, patients develop symptoms in the early stages of childhood or adolescence, and their symptoms gradually worsen during puberty. In severe cases, they become blind in the middle and old age.
She said that retinitis pigmentosa is a genetic disease, more than 60 gene mutations can lead to retinitis pigmentosa. There is no effective treatment at present, and countless patients have been shrouded in the shadow of blindness since childhood.
The visual cells are divided into rod cells and cone cells. The former is distributed in the peripheral region of the retina, responsible for feeling dark light, weak light, and residual light. The latter is distributed in the central region of the retina, responsible for sensing the precise light, glare and color perception. Vision.
Clinically, mutations that cause retinitis pigmentosa are more likely to affect rod cells, while cone cells are relatively stable and less susceptible to disease.
Zhu Jie said that rod cells and cone cells are actually differentiated from the same precursor cells. Nrl and Nr2e3 genes can regulate the differentiation of precursor cells into rod cells, and inhibit the expression of these two genes. Different cones are differentiated and even partial rod cells can be transformed into cones.
Transform rod cells into cones that are less susceptible to disease
Based on these findings, the Zhu Jie team proposed a new treatment idea: through the internationally popular CRISPR-Cas9 gene editing technology, knock out the two genes Nrl and Nr2e3 on the visual cells, making the precursor cells more differentiated into visual Cones, even transforming existing rod cells into cones, make the retina less susceptible to pathology.
The team achieved initial success by conducting experiments on a mouse model of blindness due to retinitis pigmentosa: mice treated with this gene can detect significant fluctuations in visual electrical signals under illumination, meaning mice Can "see", while the control group's visual electrical signals are very weak, indicating that they are close to blindness.
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