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Gene defect may cause some cataracts.

Gene defect may cause some cataracts

The discovery of a link between a specific genetic profile andone type of hereditary cataract could mean that some forms of human cataracts are due to defective genes, according to a report in the January PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES (Vol. 84, No. 2). In the report, Canadian, Dutch and British scientists describe a genetic profile unique to people suffering from the so-called Coppock-like cataract, a disease present at birth and characterized by opaque eye lenses.

The characteristic gene profile involves genes coding forcyrstallin, the water-soluble protein found in the eye lens and thought to be involved in lens transparency. Although the study did not prove there actually is a mutant crystallin gene present, it suggests that genes for Coppock-like cataract are located near those for crystallin. The researchers hypothesize in the report that a mutant crystallin gene might lead to distorted protein folding, causing clouding of the lens.
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Publication:Science News
Date:Feb 7, 1987
Words:157
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