ABSTRACT
Mutations Arg124Cys, Thr538Arg, Arg555Thr, Arg555Gln, Leu558Pro, and His626Arg in TGFBI gene were analyzed by polymerase chain reaction and restriction in 84 patients with various forms of corneal stromal dystrophies from 49 unrelated families and 29 clinically healthy relatives of these patients. A new mutation in TGFBI gene, Leu558Pro, was identified in the patients with atypical lattice dystrophy. The haplotypes of four microsatellite markers surrounding TGFBI gene region were analyzed in 22 families. The data on association of genotype and phenotype suggest that the analysis of TGFBI gene mutations is important for differential diagnostics of corneal dystrophies.
Subject(s)
Amino Acid Substitution , Corneal Dystrophies, Hereditary/genetics , Mutation, Missense , Transforming Growth Factor beta1/genetics , DNA Mutational Analysis/methods , Female , Genotype , Humans , Male , Pedigree , UkraineABSTRACT
Anti-cataract activity of vitamin E analog with shortened side chain--2'-4'-methyl-pentenyl-acetoxy-2,5,7-tetramethylchroman has been studied. It is shown on the model system that the analog of vitamin E inhibits the increase of the lens agent fluorescence under irradiation of its homogenates by polychrome light. Taking no negative effect on the lens capsule epithelium, the drug normalizes the content of vitamin E in the blood and increases activity of Na+, K+, ATPase in the cortex and capsule of rabbits lenses in dynamics under simulation of light cataract in vivo.
Subject(s)
Cataract/prevention & control , Chromans/therapeutic use , Lens, Crystalline/drug effects , Animals , Cataract/metabolism , Disease Models, Animal , Drug Evaluation, Preclinical , Fluorescence , Lens, Crystalline/metabolism , Rabbits , Sodium-Potassium-Exchanging ATPase/metabolismABSTRACT
Biomicroscopic studies of lenses of 300 rabbits subjected to the action of various cataractogenic factors have shown that a combined action of cataractogenic factors (3-aminotriazole and light) as well as of cataractogenic and syncataractogenic factors (carbon tetrachloride) possess a much stronger action, that the isolated effect of such factors, as light of high intensity and 3-aminotriazole. It is shown that under combined action of 3-aminotriazole and carbon tetrachloride ripe cataract develops by the 42nd week and under combined action of light, aminotriazole and carbon tetrachloride--by the 30th week. The isolated action of aminotriazole and light doesn't induce ripe cataract. Aminotriazole produces pronounced cataractous changes 50-60 weeks after administration, the light--80 weeks after the action. A conclusion is made that opacification of the lens is a result of complex causes with many factors and is conditioned not only by photochemical processes in the lens itself and disturbances in the processes of detoxification of free radicals in the tissues of the eye as a whole and in the lens, in particular, but also by changes in the antiradical status of the body as a whole.
