A kind of isolated nucleic acid molecule and its use

Abstract

The present application relates to an isolated nucleic acid molecule comprising a nucleotide sequence encoding a CAG promoter, a nucleotide sequence encoding a first protein, a nucleotide sequence encoding a second protein and a nucleoside encoding a BGH signal site An acid sequence, wherein the first protein and the second protein are each differently selected from the group consisting of CYP4V2 protein and RdCVF protein, wherein the nucleotide sequence encoding the CYP4V2 protein comprises the nucleotide sequence of SEQ ID NO:168, The nucleotide sequence encoding the RdCVF protein comprises the nucleotide sequence of SEQ ID NO:167. The present application also relates to the use of the nucleic acid molecule in the preparation of a medicament for treating, alleviating and / or preventing diseases or conditions associated with retinal pigment epithelium (RPE) atrophy.

Description

technical field [0001] This application relates to the field of biomedicine, in particular to an isolated nucleic acid molecule and its use. Background technique [0002] Bietti's crystalline dystrophy (BCD) is a rare form of retinal degeneration in which symptoms primarily include crystalline (clear coverings) in the cornea, small, yellow or white crystal-like deposits deposited in the light-sensitive tissue of the retina objects, and progressive atrophy of the retina, choroidal capillaries, and choroid. The deposits can damage the retina, causing gradual loss of vision. People with crystalline retinal degeneration usually begin to notice vision problems in their teens or twenties, and vision problems can worsen at different rates in each eye, even within the same family Progression varies widely among individuals, yet most sufferers become blind by the age of forty or fifty. Crystalline retinal degeneration is estimated to affect 1 in 67,000 people worldwide and is more...

AI Technical Summary

Problems solved by technology

The CYP4V2 gene is one of the proteins in the cytochrome P450 superfamily. The protein encoded by the CYP4V2 gene is involved in the process of fatty acid metabolism. It is generally believed that the mutation of the CYP4V2 gene in crystal-like retinal degeneration destroys its enzyme function involved in fatty acid metabolism, thereby affecting lipid breakdown.

However, how CYP4V2 causes the specific signs and symptoms of BCD is unclear

At present, the treatment of BCD mainly refers to the treatment of retinitis pigmentosa (RP). Although the research of CYP4V2 gene mutation provides the possibility of gene therapy in the future, there is no effective treatment at present.

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