Genetic material has been analyzed from members of a large Swiss family, the majority of whom suffered from auto-somal dominant juvenile cataract.  From the DNA, researchers at ETH Zurich and the University Zurich identified the chromosomal location and exact molecular defect in the coding region of the gene responsible for the type of childhood cataract. Until now, no human disease could be associated with this gene.
The corresponding protein arising from the gene belongs to a family of monocarboxylate transporters which move small molecules across cell membranes. Surprisingly, this genetic defect may also lead to the condition of renal glucosuria, a kidney defect which results …read more