53 results about "Pigmentary degeneration" patented technology

Disclosed are compositions useful for treating Alzheimer's disease, atherosclerosis, arteriosclerosis, osteoarthritis and other degenerative joint diseases, Huntington's chorea, Parkinson's disease, optic atrophy, retinitis pigmentosa, macular degeneration, muscular dystrophy, aging-associated degenerative processes, asthma, dermatitis, laminitis, pemphigoid, pemphigus, reactive airway disease (e.g., COPD, IAD), inflammatory bowel disease (e.g., Crohn's disease, ulcerative colitis), multiple sclerosis, rheumatoid arthritis, periodontal disease, systemic lupus erythematosus, sarcoidosis, psoriasis, type I diabetes, ischemia-reperfusion injury, chronic inflammatory diseases, geriatric wasting, cancer cachexia, cachexia associated with chronic inflammation, sick feeling syndrome, and other inflammatory and / or degenerative diseases, disorders, conditions, and processes in humans and other animals. In one embodiment, the compositions include at least 4 of the following: a MMP1 inhibitor, a MMP2 inhibitor, a MMP3 inhibitor, a MMP7 inhibitor, a MMP9 inhibitor, an ADAMTS-4 inhibitor, a MMP13 inhibitor, and a MMP14 inhibitor. In another embodiment, the compositions include a curcuminoid, a polymethoxylated flavone, a catechin, and a boswellic acid.

The invention discloses a xanthophyll compound preparation with a powerful eye-protecting effects, which is made from the following raw materials in a certain proportion: xanthophyll, cowberry extracts, taurine, beta-carotin, zeaxanthin and zinc gluconate, in addition with adjuvant materials, and is available in various common forms such as capsules, granules and oral liquids. The main indications of the xanthophyll compound preparation include asthenopia, myopia, amblyopia, hypermetropia, cataract, macular degeneration, vitreous opacity, retinitis pigmentosa and diabetic retinopathy. The xanthophyll compound preparation contains compound ingredients, has a significant curative effect and is very worthy to be promoted.

The invention discloses a lutein ophthalmic preparation for protecting eyesight, which is prepared from the following raw materials: 5 to 13 parts of water-soluble lutein (based on C4oH56O2), 50 to 80 parts of taurine, 0.1 to 0.5 parts of selenium (based on Se), 10 to 25 parts of zinc (based on Zn), 0.5 to 1.0 part of water-soluble vitamin A, and 0.8 to 2.0 parts of glutathione; an auxiliary material consists of a diluent, a wetting agent, an isoosmotic adjusting agent, a preservative, an antioxygen and water for injection; formulations comprise eye drops, eye lotion and the like; and the lutein ophthalmic preparation is suitable for eye diseases such as myopia, long sight, cataract, glaucoma, retinal pigment degeneration, macular degeneration and the like. Various nutritious factors are reasonably compatible, a blank of a lutein external preparation is filled, and the bioavailability and health-care effect are obviously improved; and through actual application by 300,000 people, the total effective rate for the myopia, cataract and diabetic eye disease is over 90 percent and the lutein ophthalmic preparation has positive promotion valve.

The invention discloses a method for constructing a retinal pigment degeneration disease model by utilizing a Gm20541 gene and application, and relates to the technical field of medical engineering. According to the method disclosed by the invention, a Gm20541 gene sequence in a genome in retinal precursor cells is knocked out in a specific targeting manner; a target animal shows typical retinal pigment degeneration disease characteristics; a reliable animal model is provided for research of the Gm20541 gene related retinal pigment degeneration disease, the pathogenesis and mechanism of the retinal pigment degeneration disease can be helped to be illuminated, a new target is provided for treatment or prevention of the disease, and the application prospect is wide.

The invention relates to an isolated nucleic acid for coding an SNRNP200 mutant, an isolated polypeptide, a method, system and kit for screening a biological sample which is susceptible to the primary pigmentary degeneration of the retina and a method for screening a medicament for treating or preventing the primary pigmentary degeneration of the retina. Compared with the SEQ ID NO: 1, the sequence of the isolated nucleic acid for coding the SNRNP200 mutant has c. C2653G mutation. The susceptibility of the biological sample to the primary pigmentary degeneration of the retina can be detected effectively by detecting whether the new mutant exists in the biological sample.

Aspects of the disclosure relate to methods and compositions for treating retinitis pigmentosa. In some aspects, the disclosure provides compositions and methods for delivering an interfering nucleicacid (for example an interfering RNA) to a subject in order to reduce expression of one or both alleles of an endogenous rho gene (for example a mutant rho allele associated with retinitis pigmentosa)in the subject. In some embodiments, a replacement rho gene that is resistant to the interfering nucleic acid also is delivered to the subject.

The invention discloses a method for constructing a retinitis pigmentosa disease model, application and a breeding method, and relates to the technical field of gene editing. According to the method, a Mettl14 gene of a target animal is modified, so that the target animal shows typical retinitis pigmentosa disease characteristics, and the target animal can be used as the retinitis pigmentosa disease model. According to the method, a new disease model with retinitis pigmentosa disease characteristics can be constructed. The disease model can be used for related research on the pathogenesis process and mechanism of the retinitis pigmentosa disease, can also be used for screening related drugs of the retinitis pigmentosa disease, and has a wide application prospect.

The invention discloses an application of sodium valproate during preparing medicament for treating retina disease, the treating of the retina disease is to protect the retina photoreceptor cell. It is proved that, the sodium valproate is applied to an animal model with pigmentary degeneration of retina which is one kind of the retina disease, the action for acting against the apoptosis of the photoreceptor cell, the progressive degrading of the photoreceptor cell can be delayed, the sodium valproate can be used as active component to prepare the retina disease neural protection medicament, especially to prepare the medicament for protecting the photoreceptor cell, and the good effect can be reached.

The invention relates to application of a ginsenoside Rb1 and Rd combination to preparation of a medicine for treating photoreceptor cell death related diseases. A mouse model suffering from retinal light damage is adopted to simulate the common key pathological links in the process of various degenerative retinal diseases so as to research the intervention effects of the ginsenoside Rb1 and Rd combination on the mouse model suffering from retinal light damage, and the results show that the medicinal combination can maintain the format of the retina outer nuclear layer, effectively prevent the retina outer nuclear layer from degenerative damage and thickness reduction, inhibit death of photoreceptor cells, block oxidative stress of retinal pigment epitheliums and photoreceptor cells, effectively inhibit retinal damage related immuno-inflammatory responses and remarkably improve the degenerative retinal diseases. Therefore, the ginsenoside Rb1 and Rd combination can be used for preparing the medicine for treating various degenerative retinal diseases including age-related macular degeneration, retinal pigment degeneration, Stargardt disease, cone-rod cell dystrophy, diabetic retinopathy and the like.

The invention relates to a gene therapy carrier for treating retinitis pigmentosa diseases. Specifically, a targeted special optimal design is performed on a PROM1 gene coding sequence, so that a nucleotide sequence which is especially suitable for efficiently expressing PROM1 protein in cells (particularly photosensory cells) in lactation animals (such as people) is obtained, a recombinant AAV virus expressing normal human derived PROM1 protein is constructed, and the validity of the recombinant AAV virus in a PROM1 knockout mouse model is proved. The experiment result indicates that comparedwith the expression quantity of a coding sequence which is not optimized, the expression quantity of a PROM1 coding sequence (SEQ ID NO.:1) after special optimization is notably increased by 3 timesor above, so that the gene therapy carrier is extremely suitable for expression in the cells of the lactation animals (especially people), and can effectively treat eye diseases of the retinitis pigmentosa diseases and the like.

The invention relates to the technical field of biomedical gene treatment, and discloses a nucleotide sequence for coding human receptor tyrosine kinase Mer and application thereof. The nucleotide sequence disclosed by the invention and the nucleotide sequence shown in SEQ ID NO: 3 have more than or equal to 95% identity. The application proves that by using an AAV-MERTK drug for treatment, the retinal pathology symptoms of rats with retinitis pigmentosa caused by MERTK mutation can be remarkably improved, and retinal function recovery can be remarkably improved. The AAV-MERTK drug is injectedinto a vitreous cavity, MERTK can be efficiently expressed in a retinal pigment epithelium layer, and the thickness of a retinal outer nuclear layer is increased. Meanwhile, a retinal potential diagram shows that compared with a control group, the rats in an AAV-MERTK drug treatment group have strong response to stimulation. Therefore, the AAV-MERTK drug has the effect of preventing or treating the retinitis pigmentosa.

The invention relates to an artificial transcription factor comprising a polydactyl zinc finger protein targeting specifically a receptor gene promoter fused to an inhibitory or activatory protein domain, a nuclear localization sequence, and a protein transduction domain. In particular examples these receptor gene promoters regulate the expression of the endothelin receptor A, the endothelin receptor B, the Toll-like receptor 4 or the high-affinity IgE receptor. Artificial transcription factors directed to the endothelin A or B receptors are useful in the treatment of diseases modulated by endothelin, such as cardiovascular diseases, and, in particular, eye diseases, e.g. retinal vein occlusion, retinal artery occlusion, macular edema, optic neuropathy, central serous chorioretinopathy, retinitis pigmentosa, Leber's hereditary optic neuropathy, and the like. Artificial transcription factors directed to the Toll-like receptor 4 or the IgE receptor are useful for the treatment of autoimmune disorders, and the like, and allergic disorders, respectively.

An application of tuduranine in treating the nervous degenerations of rectina, such as age-related macular degeneration, pigmentary degeneration of retina, etc is disclosed.

An isolated polynucleotide encoding human glutamate cysteine ligase and human glutathione synthase, as well as expression constructs, vectors and pharmaceutical compositions comprising the same, are provided herein. Methods for use of these compositions in the treatment oxidative stress related diseases, including, for example, atherosclerosis, Parkinson's disease, heart failure, myocardial infarction, Alzheimer's disease, diabetes, chronic lung disease, diseases associated with mitochondrial dysfunction, diseases associated with chronic inflammation, retinitis pigmentosa, wet age related macular degeneration, dry age related macular degeneration, diabetic retinopathy, Lebers optic neuropathy, and optic neuritis are also provided.

An application of tuduranine in treating the nervous degenerations of rectina, such as age-related macular degeneration, pigmentary degeneration of retina, etc is disclosed.

The invention discloses application of a ZNF124 gene in early screening or auxiliary diagnosis of retinal pigment degeneration disease, and relates to the technical field of gene detection. The invention discloses application of a detection reagent for detecting ZNF124 gene mutation in preparation of a reagent or a kit for early screening or auxiliary diagnosis of the retinal pigment degenerationdisease. Research finds that the mutation of the ZNF124 gene is related to the retinal pigment degeneration disease, early screening or auxiliary diagnosis can be performed on the retinal pigment degeneration disease by detecting the mutation of the ZNF124 gene, and a new scheme is provided for early screening or diagnosis of the retinal pigment degeneration disease.

The invention relates to a method for preparing a retinitis pigmentosa non-human mammal model. The method comprises the following steps of replacing an endogenous ctsd gene on one of homologous chromosomes of an animal with an h-CTSD * gene, wherein the h-CTSD * gene is a humanized ctsd gene which is subjected to c.262dupC site variation. The h-CTSD * gene is discovered to be related to RP for thefirst time, and an h-CTSD * gene knocked-in mouse animal model is established. The invention provides a convenient, reliable and economic means for studying the relationship between CTSD mutation andretinitis pigmentosa and the pathogenesis of CTSD mutation and retinitis pigmentosa, and provides a reliable theoretical basis for studying CTSD mutation and retinitis pigmentosa. More importantly, besides RP, the animal does not show neurological disease symptoms such as spasm, neuron wax-like lipofuscin deposition and ataxia, the pathological background is purer, and the method is particularlysuitable for construction of an RP animal model.

A method for remedying retinitis pigmentosa is characterized by comprising the following steps that: 1. a biological membrane is planted into the four directions (outer up, outer down, inner up and inner down directions) at the surface of eyeball surface to increase and improve the blood supply of the retina and the choroids, which restores the function of the eyeground optical cell with low function; 2. at a temporal superficial artery block part, the blood supply to blood vessels is divided for increasing the flux of the eye blood vessels. The present invention adopts an operation manner to protect and improve optic nerve and retinal function by establishing a new blood supply approach to increase the eyeground blood supply, which creates a novel approach for remedying the eyeground ischemic disease, brings new hope to a plurality of the patients with the retinitis pigmentosa and takes great effect on promoting the development of the ophthalmic medical treatment technology.

According to the invention, a CRISPR gene editing system and an AAV transduction system are utilized to directly knock out an RHO gene from adult macaque retinal photoreceptor cells so as to simulateretinal degeneration degeneration caused by hereditary RHO mutation, and a macaque retinal pigment degeneration (RP) animal model is constructed within 3-6 months. The model can promote research and treatment of human RP diseases.

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.

The invention discloses a multi-element integral vision and vertebral column correction method which comprises the following steps: I, massaging the back; II, massaging the head; III, massaging the face; IV, performing moxa-moxibustion treatment; V, massaging shoulders and the neck; VI, massaging sole reflection regions; VII, massaging ears; VIII, performing physical massage; IX, massaging eyes; and X, correcting the vertebral column. On the theoretical basis of traditional Chinese medicines, the method has an additional holographic therapeutic method of the sole reflection regions, the facesand the ears, and a plant physical therapeutic method as well, a comprehensive physical therapy effect can be achieved through main and collateral channels, acupuncture points, plant essential oil, hot compressing of medicines and pure physical artificial massage and dredging together with self assisted exercise, and not only is juvenile myopia effectively treated, but also juvenile vertebral column correction can be assisted; and in addition, eye dryness, eye fatigue, iriditis, xerophthalmia, hordeolum, retinitis pigmentosa, macular degeneration, optic neuritis and strabismus can be effectively treated.

Disclosed herein are methods of treating disorders of the retina (e.g., macular degeneration, retinitis pigmentosa, etc.) comprising administering to a subject in need of such treatment a therapeutically effective amount of a compound (for example, an antipsychotic drug) that blocks or diminishes agonist-mediated responses upon binding to either dopamine D2-like receptors or serotonin 5-HT2 receptors.

The invention relates to a method for preparing a non-human mammalian model of retinitis pigmentosa. The method comprises replacing the endogenous ctsd gene on one of the homologous chromosomes of the animal with the h-CTSD* gene; the h-CTSD* gene is a human ctsd gene with a c.262dupC site mutation. This application first discovered that the h-CTSD* gene is related to RP, and established a mouse animal model in which the h-CTSD* gene was knocked in. The invention provides a convenient, reliable and economical means for studying the relationship between CTSD mutation and retinitis pigmentosa and its pathogenic mechanism, and provides a reliable theoretical basis for the research. More importantly, the animal does not show symptoms of neurological diseases such as spasms, neuronal ceroid lipofuscin deposition, ataxia, etc., except for RP, and the pathological background is simpler, which is very suitable for the construction of RP animal models .

The invention relates to a kit, which comprises 1) a vector, 2) a pharmaceutically acceptable carrier, wherein the vector comprises a nucleic acid molecule capable of encoding sgRNA that specificallybinds to an RHO gene comprising a mutation site selected from c.C50T and c.C403T. The invention also relates to a method for treating retinal pigment degeneration by using the kit.

The invention relates to the technical field of biomedical gene therapy, and discloses a PDE6B nucleotide sequence and application thereof. The present invention confirms that the protein expression efficiency of the codon-optimized PDE6B coding sequence is higher than that of the wild-type sequence, and the use of AAV2 / 2.7m8-coPDE6B drug treatment can significantly improve the retinal pathological symptoms of mice with retinitis pigmentosa caused by PDE6B mutation and achieve retinal Restoration of functionality. Injection of AAV2 / 2.7m8‑coPDE6B drug, PDE6B can be highly expressed in the retinal outer nuclear layer and increase the retinal outer nuclear layer thickness. Potentiometric retinal images showed that mice in the AAV2 / 2.7m8‑coPDE6B drug-treated group responded strongly to stimulation. Therefore, AAV2 / 2.7m8‑coPDE6B drugs can prevent or treat retinitis pigmentosa.

The invention relates to the technical field of biomedical gene therapy, and discloses an AGBL5 nucleotide sequence for encoding cytoplasm carboxypeptidase protein 5 and application of the AGBL5 nucleotide sequence. The nucleotide sequence disclosed by the invention is more than or equal to 95% identical to the nucleotide sequence shown in SEQ ID NO: 3. According to the present invention, the efficiency of the codon-optimized AGBL5 coding sequence expression protein is proved to be higher than the efficiency of the wild-type sequence, the AAVAGBL5 plasmid transfected HEK cell containing the nucleotide sequence can express the AGBL5 protein, and the protein can correctly perform the function. Meanwhile, the AAV2 / 2.7 M8-coAGBL5 drug treatment can be used for knocking out lesion eye expression protein of a mouse in AGBL5 and remarkably improving tubulin high glutamic acid caused by defects of the AGBL5, and has the effect of preventing or treating retinal pigment degeneration.

The invention discloses a method for constructing a retinitis pigmentosa disease model, an application and a breeding method, and relates to the technical field of gene editing. The method disclosed in the present invention modifies the Mettl14 gene of the target animal so that the target animal exhibits typical characteristics of the retinitis pigmentosa disease, and can be used as a model of the retinitis pigmentosa disease. The method disclosed in the invention can construct a new disease model with the characteristics of retinitis pigmentosa disease. The disease model can be used for related studies on the pathogenesis and mechanism of retinitis pigmentosa disease, and can also be used for drug screening related to retinitis pigmentosa disease, and has broad application prospects.

The invention provides a mutant gene, which is characterized in that: it has c.1997 T>A and / or c.2426 A>C mutation on the basis of human CRB1 gene. The present invention also provides the use of the relevant reagents for detecting human CRB1 gene mutation sites c.1997 T>A and / or c.2426 A>C in the preparation of screening reagents for retinitis pigmentosa. The invention applies the variation of the c.1997 T>A and / or c.2426 A>C site of the CRB1 gene to the preparation of an auxiliary diagnosis kit for retinitis pigmentosa, which can achieve the purpose of screening.

Aspects of the disclosure relate to methods and compositions useful for treating retinitis pigmentosa. In some aspects, the disclosure provides compositions and methods for delivering an interfering RNA to a subject in order to reduce expression of one or both alleles of an endogenous RHO gene (for example a mutant rho allele associated with retinitis pigmentosa) in a subject. In some embodiments,a replacement RHO coding sequence that is resistant to the interfering RNA also is delivered to the subject.