Fast fluorometric method for measuring pendrin (SLC26A4) Cl -/I - transport activity

Silvia Dossena, Simona Rodighiero, Valeria Vezzoli, Claudia Bazzini, Chiara Sironi, Giuliano Meyer, Johannes Fürst, Markus Ritter, Maria L. Garavaglia, Laura Fugazzola, Luca Persani, Patrick Zorowka, Carlo Storelli, Paolo Beck-Peccoz, Guido Bottà, Markus Paulmichl

Research output: Contribution to journalArticlepeer-review

Abstract

Malfunction of the SLC26A4 protein leads to Pendred syndrome, characterized by sensorineural hearing loss, often associated with mild thyroid dysfunction and goiter. It is generally assumed that SLC26A4 acts as a chloride/anion exchanger, which in the thyroid gland transports iodide, and in the inner ear contributes to the conditioning of the endolymphatic fluid. Here we describe a fast fluorometric method able to be used to functionally scrutinize SLC26A4 and its mutants described in Pendred syndrome. The validation of the method was done by functionally characterizing the chloride/iodide transport of SLC26A4, and a mutant, i.e. SLC26A4 S28R, which we previously described in a patient with sensorineural hearing loss, hypothyroidism and goiter. Using the fluorometric method we describe here we can continuously monitor and quantify the iodide or chloride amounts transported by the cells, and we found that the transport capability of the SLC26A4 S28R mutant protein is markedly reduced if compared to wild-type SLC26A4.

Original languageEnglish
Pages (from-to)67-74
Number of pages8
JournalCellular Physiology and Biochemistry
Volume18
Issue number1-3
DOIs
Publication statusPublished - 2006

Keywords

  • Chloride measurements
  • Chloride transport
  • EYFP
  • Pendrin

ASJC Scopus subject areas

  • Physiology
  • Cell Biology

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