New cataract gene discovered

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Same image as above but simulated as seen through the lens of a cataract patient with a different clouding defect of the lens compared to picture 2. Glare in addition to blurry images disturb the visual perception. Photo: Stephan Labs
Same image as above, but simulated as seen through the lens of a cataract patient with a different clouding defect of the lens compared to picture 2. Glare, in addition to blurry images, disturb the visual perception. Photo: Stephan Labs

The international team of researchers was able to identify the location and defect in the coding region of the gene through analysis of genetic material (DNA) from members of a large Swiss family, the majority of whom suffered from autosomal dominant juvenile cataract. The corresponding protein belongs to a family of monocarboxylate transporters which move small molecules across cell mem-branes. Surprisingly, this genetic defect may also lead to the condition of renal glucosuria, a non-pathological kidney defect with elevated levels of glucose in the urine, but not in blood.


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