Final Activity Report Summary - TRANSCURE (Biomedical implications of epithelial transporters and channels)
On the other hand, trpv6 knockout mice exhibited decreased intestinal Ca2+ absorption without obvious compensation by trpv5 in the intestine, resulting in secondary hyperparathyroidism. In our studies, we investigated the coding region of the TRPV6 gene in 170 Swiss Ca2+ stone formers. We found a haplotype containing three non-synonymous polymorphisms. Our functional analyses demonstrate that it produces a gain-of-function channel. Our results strongly indicate that genetic alterations of the TRPV6 gene are risk factors for hypercalciuria. The outcome of these proposed studies may help decrease the cost of medical treatment of kidney stone patients through the development of more specific treatment approaches that are based on knowledge of our TRPV and also citrate transporter molecules.