Construction method and application of retinitis pigmentosa animal model
A retinal pigment and model technology, applied in the field of biomedicine, can solve the problems of unclear pathogenic mechanism of mutant genes, lack of etiology and pathological mechanism, obstacles, etc.
Pending Publication Date: 2021-06-18
SHANGHAI FIRST PEOPLES HOSPITAL
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Problems solved by technology
At present, there is a lack of in-depth systematic research on the etiology and pathological mechanism of the disease, and the pathogenic mechanism of the mutated gene is still unclear, which brings obstacles to the development of targeted therapeutic interventions
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Embodiment Construction
[0060] After extensive and in-depth research, the inventors discovered for the first time that there is a c.262dupC mutation in CTSD gene unexpectedly in RP patients. Even more unexpectedly, when the virus vector rAAV / CTSD-MUT was introduced into the retina, the mice developed retinitis pigmentosa-like pathological manifestations after 4-8 weeks, suggesting that the CTSD mutant protein may have retinal toxicity, so a non-retinopathy-like pathology of retinitis pigmentosa can be established. Preparation of human mammalian models. On this basis, the inventors have completed the present invention.
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The invention provides a construction method and application of a retinitis pigmentosa animal model. The invention specifically provides a mutant of a cathepsin D (Cathepsin D, CTSD) gene. The mutant is formed by repeating a C basic group at the 262nd site of the CTSD gene. The invention further provides a CTSD mutant protein. Compared with a wild type CTSD protein, the 88th amino acid of the mutant protein begins to be subjected to frameshift mutation. The invention also provides a nucleic acid molecule and a carrier for coding the mutant protein, and a pharmaceutical composition prepared from the mutant protein, the nucleic acid molecule and the carrier. When the pharmaceutical composition is applied to non-human mammals, retinitis pigmentosa diseases can be induced, so that the pharmaceutical composition can be used as a convenient and stable retinitis pigmentosa non-human mammal model.
Description
technical field [0001] The invention belongs to biomedicine, in particular, the invention relates to a method for constructing an animal model of retinitis pigmentosa and its application. Background technique [0002] Retinitis pigmentosa (RP) is a common hereditary blinding disease, clinically manifested as night blindness, peripheral visual field defect and progressive vision loss. RP initially primarily affects rods, resulting in impaired night vision. Cone dysfunction and damage to retinal pigment epithelium (RPE) cells followed. Typical fundus changes include sallow optic discs, thinning of retinal vessels, salt and pepper changes in the midperipheral retina, and / or osteocyte-like pigmentation. The clinical manifestations of RP patients with different genetic patterns, different etiologies, and different ages vary greatly. At present, there is a lack of in-depth systematic research on the etiology and pathological mechanism of the disease, and the pathogenic mechanis...
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Login to View More IPC IPC(8): C12N9/64C12N15/57C12N15/864A01K67/027C12Q1/6883G01N33/573A61K49/00
CPCA01K67/0278A01K2217/072A01K2227/105A01K2267/03A61K49/0008C12N9/6478C12N15/86C12N2750/14143C12Q1/6883C12Q2600/156C12Y304/23005G01N33/573
Inventor 刘洋罗学廷孙晓东
Owner SHANGHAI FIRST PEOPLES HOSPITAL
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