44 results about "Cornea dystrophy" patented technology

The present invention relates to a medicine for treating Avellino corneal dystrophy (ACD), and more particularly, to a pharmaceutical composition for treating Avellino corneal dystrophy containing an antibody against TGF-β as an effective ingredient. The pharmaceutical composition of the present invention has an effect of improving symptoms of a patient with severe Avellino corneal dystrophy due to TGF-β induced by exposure to intense light, such as UV etc.

The invention features compositions and methods comprising at least one compound selected from a proteasomal inhibitor, an autophagy inhibitor, a lysosomal inhibitor, an inhibitor of protein transport from the ER to the Golgi, an Hsp90 chaperone inhibitor, a heat shock response activator, a glycosidase inhibitor or histone deacetylase inhibitor that are useful for treating or preventing a protein conformation disease in a subject by correcting misfolded proteins in vivo. The compositions and methods can further comprise an 11-cis-retinal or 9-cis-retinal compound. Examples of protein conformation disorders and / or diseases may include retinitis pigmentosa, age-related macular degeneration, glaucoma, corneal dystrophies, retinoschises, Stargardt's disease, autosomal dominant druzen, Best's macular dystrophy, al -antitrypsin deficiency, cystic fibrosis, Huntington's disease, Parkinson's disease, Alzheimer's disease, nephrogenic diabetes insipidus, cancer and / or Jacob-Creutzfeld disease.

The invention relates to the field of medicine, in particular to oligonucleotides, virus vectors, application of the oligonucleotides and the virus vectors and an RNAi medicinal preparation. The oligonucleotide is one sequence from SEQ ID NO: 3 to SEQ ID NO: 21; or a nucleic acid sequence having no less than 80% consistency with one of the sequences from SEQ ID NO: 3 to SEQ ID NO: 21. The oligonucleotide, the virus vector and the RNAi pharmaceutical preparation provided by the invention can be used for effectively treating and preventing corneal dysplasia or corneal dystrophy caused by TGFBI Met619Lys mutation.

The present invention relates to a system for diagnosing Avellino corneal dystrophy, and more particularly to a system for diagnosing Avellino corneal dystrophy, in which whether a sample is normal or Avellino corneal dystrophy is determined based on the ratio of the input first PCR amplification value and the second PCR amplification value. The system makes it possible to diagnosis Avellino corneal dystrophy in a simpler and accurate manner without being influenced by the doctor's skill. Particularly, the inventive system makes the overall process systematic, and thus provides accurate diagnosis. In addition, the system can also easily administer a number of test subjects.

The invention discloses a quick and efficient detection method of mutation sites of genes associated with corneal dystrophy. The method comprises the steps of firstly, preparation of a mutational DNA template and design of primers, wherein TGFBI gene fragments containing four mutation sites are artificially synthesized respectively and used for detecting the detection efficiencies of the mutation sites; meanwhile, specific amplification primers aiming at normal sites and the mutation sites are designed respectively, corresponding reverse primers are designed, three primers are composited to form a primer premix liquid, and in addition, the 5' ends of two forward primers are connected with different primer detection sequences respectively and used for fluorescence detection; secondly, establishment of a PCR detection system; thirdly, result interpretation. Compared with the prior art, the technology has the advantages of being accurate and reliable in detection result, higher in flux, flexible in experimental design, convenient and efficient in operation, fast in detection speed, easy for popularization and low in cost.

The present invention relates to the technical field of biomedicine, in particular to nucleotides, viral vectors and their applications and RNAi pharmaceutical preparations. The nucleotide is selected from one of the following nucleic acid sequences: the nucleic acid sequence is one of SEQ ID NO: 3 or SEQ ID NO: 4; at 80% of the nucleic acid sequence. The promoter-optimized RNAi medicine of the invention has the effect of treating and preventing corneal dystrophy caused by the Q455K mutation of COL8A2 gene.

The invention provides an SNP (single nucleotide polymorphism) locus for detection of macular corneal dystrophy. The SNP locus is a 250th-272th basic group from an initiation codon in a CHST6 gene coding region. Due to providing of a new usage of a CHST6 gene, an effective approach of macular corneal dystrophy gene diagnosis, prenatal gene screening and genetic counseling is provided. According to application effects, the SNP locus and detection primers can be effectively applied to fast CHST6 gene mutation site test of clinical patients and chorionic villus or amniotic fluid.

The present disclosure provides a method for detecting corneal dystrophy in a subject, comprising a reaction mixture, the reaction mixture comprising one or more labeled probes comprising a mutant TGFBI nucleotide sequence; the reaction mixture further comprises at least one amplification primer pair for amplifying a TGFBI gene sequence from a biological sample from the subject; and detecting one,two, three, four, five or six mutations selected from the group consisting of G623D, M502V, R124S, A546D, H572R, and H626R mutations in TGFBI gene, wherein the detecting comprises detecting the one or more mutations using the labeled detection probes. Further provided is a reaction kit comprising the reaction mixture.

The present invention relates to a real-time PCR primer pair and probe for diagnosing Avellino corneal dystrophy, and more particularly to a real-time PCR primer pair and probe for diagnosing Avellino corneal dystrophy, which can accurately diagnose the presence or absence of a mutation in exon 4 of BIGH3 gene, which is responsible for Avellino corneal dystrophy. The use of the primer pair and probe according to the invention can diagnose Avellino corneal dystrophy in a more rapid and accurate manner than a conventional method that uses a DNA chip or PCR.

A multi-spot metal-capped nanostructure array nucleic acid chip for diagnosing corneal dystrophy, and more particularly to a multi-spot metal-capped nanostructure array nucleic acid chip capable of employing LSPR (localized surface plasmon resonance) optical properties, a preparation method thereof, and a multi-spot metal-capped nanostructure array nucleic acid chip for diagnosing BIGH3 gene mutations, which can diagnose various corneal dystrophies. The metal-capped nanostructure array nucleic acid chip can be combined with analysis devices, including a light source, a detector, a spectrophotometer and a computer, to provide an LSPR optical property-based optical biosensor, and the use of the multi-spot metal-capped nanostructure array nucleic acid chip for diagnosing BIGH3 gene mutations allows the simultaneous diagnosis of various corneal dystrophies that are genetic ocular diseases.

The present invention relates to a pharmaceutical, dietary and / or food composition, comprising saffron for use in the prevention and / or treatment of corneal dystrophies. The present invention also relates to a combination comprising saffron and at least one antioxidant and to a pharmaceutical dietary and / or food composition comprising said combination for use in the prevention and / or treatment of corneal dystrophies.

The invention provides an application of a penetrant in preparation of a medicine for treating protein aggregation related disorders, and particularly provides an application of a penetrant in preparation of a medicine for treating TGFBI corneal dystrophy. The penetrant is selected from betaine, raffinose, sarcosine, taurine and / or any pharmaceutically acceptable derivative thereof.