53 results about "Pigmentary degeneration" patented technology

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.

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 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 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.

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.