Application of RS1 gene in preparation of XLRS therapeutic agent and therapeutic agent

Abstract

The invention relates to application of an RS1 gene in preparation of an X-linked retina splitting disease therapeutic agent. The invention further relates to a therapeutic agent for the X-linked retina splitting disease, the therapeutic agent comprises an RS1 gene expression vector, and the RS1 gene expression vector contains an RS1 gene expression cassette. The RS1 gene sequence in the RS1 gene expression cassette is a codon optimized sequence, the promoter for controlling the RS1 gene expression is a CMV promoter, and the RS1 gene expression cassette also comprises a non-coding regulatory sequence. The therapeutic agent capable of effectively treating the X-linked retina splitting disease is obtained by constructing an efficiently expressed RS1 gene expression vector, and after the therapeutic agent is applied to a vitreous cavity in an injection mode, the expression of RS1 protein can be remarkably improved, so that the aim of treating the X-linked retina splitting disease is achieved, and the therapeutic agent has a wide application prospect in treatment of the X-linked retina splitting disease. The compound is hopeful to become a candidate drug for treating X-linked retinopathy.

Description

technical field [0001] The invention relates to the field of ophthalmic disease treatment and molecular medicine, in particular to the application of RS1 gene in the preparation of a therapeutic agent for X-linked retinoschisis. Background technique [0002] X-linked juvenile retinoschisis (XLRS) is a rare retinal degenerative disease caused by mutations in the RS1 gene, with an incidence of approximately 1:25,000 to 1:5,000. The disease is X chromosome recessive inheritance, more common in males, and females are often asymptomatic carriers (George N D, et al. X linkedretinoschisis. Br J Ophthalmol, 1995,79(7):697-702.George N D, et al. Clinicalfeatures in affected males with X-linked retinoschisis. Arch Ophthalmol, 1996, 114(3): 274-80.). Retinoschisis often occurs between the retinal nerve fiber layer and the ganglion cell layer and can lead to severe visual loss, foveal splitting, and a disproportionate decrease in b waves relative to a waves in the electroretinogram (Mo...

AI Technical Summary

Problems solved by technology

However, at present, no sufficiently efficient delivery vector has been constructed and screened to deliver the normal RS1 gene into the body for gene therapy of XLRS

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