One of the leading causes of serious visual impairment in young children is congenital cataracts (1). Cataracts and subsequent reductions in vision are the result of opacification of the lens. The human lens is primarily made up of water-soluble proteins called crystallins, which are divided into three groups, alpha, beta, and gamma (2). Mutations in all three of the types have been found to cause the formation of cataracts, although the exact mechanisms remain elusive (3). An autosomal dominant mutation in human alphaA crystallin was discovered to be the cause of one type of congenital cataract in humans (3). In order to study the mechanism by which this mutation results in cataract formation it is necessary to first study the normal form of human alphaA crystallin. This project accomplishes the expression, isolation, and purification of human alphaA crystallin.
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