Research Project
3426232
The project involves breeding a mutant line of sheep carrying a dominant gene associated with inherited cataract commencing 6 to 8 weeks after birth and being complete by one year of age. Initial biochemical studies are aimed at identifying the mutant gene product by electrophoretic techniques. It is postulated that because of the dominant mode of inheritance this is likely to be a structural protein, i.e. one of the crystallins, membrane or gap junction proteins. A study of the basic defect and its effect on cataractogenesis should allow a better understanding of normal structure and physiology of the lens. Such information has relevance to the understanding of some forms of cataract in humans and development of strategies to help manage cataractous change. Cataractous males are to be mated to normal females fo provide 50% affected progency with the remaining normal progeny to act as controls. One lens will be obtained surgically from animals prior to the onset of cataractogenesis and at varying stages during development of cataracts. Soluble crystallins and the less soluble gap junction/membrane proteins will be examined qualitatively and/or quantitatively by electrophoretic, and chromatographic techniques. These studies will be augmented by freeze fracturing-transmission electron microscopy of lens fibre gap junctions and of isolated preparations of gap junctions.
