Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.


BACKGROUND Malfunction of the SLC26A4 protein leads to prelingual deafness often associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a chloride/anion exchanger responsible for the iodide organification in the thyroid gland, and conditioning of the endolymphatic fluid in the inner ear. METHODS Chloride uptake studies were made using HEK293-Phoenix cells expressing human wild type SLC26A4 (pendrin) and a mutant (SLC26A4(S28R)) we recently described in a patient with hypothyroidism, goiter and sensorineural hearing loss. RESULTS Experiments are summarized showing the functional characterization of wild type SLC26A4 and a mutant (S28R), which we described recently. This mutant protein is transposed towards the cell membrane, however, its transport capability is markedly reduced if compared to wild-type SLC26A4. Furthermore, we show that the SLC26A4 induced chloride uptake in HEK293-Phoenix cells competes with iodide, and, in addition, that the chloride uptake can be blocked by NPPB and niflumic acid, whereas DIDS is ineffective. CONCLUSIONS The functional characteristics of SLC26A4(S28R) we describe here, are consistent with the clinical phenotype observed in the patient from which the mutant was derived.

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@article{Dossena2006FunctionalCO, title={Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.}, author={Silvia Dossena and Valeria Vezzoli and Nadia Cerutti and Claudia Bazzini and Marisa Tosco and Chiara F. Sironi and Simona Rodighiero and Giuliano Meyer and Umberto Fascio and Johannes F{\"{u}rst and M. Ritter and Laura Fugazzola and Luca Persani and Patrick Georg Zorowka and Carlo Storelli and Paolo Beck-Peccoz and Guido Bott{\'a} and Markus Paulmichl}, journal={Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology}, year={2006}, volume={17 5-6}, pages={245-56} }