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

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 inne...

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Published in:Cellular physiology and biochemistry Vol. 18; no. 1-3; p. 67
Main Authors: Dossena, Silvia, Rodighiero, Simona, Vezzoli, Valeria, Bazzini, Claudia, Sironi, Chiara, Meyer, Giuliano, Fürst, Johannes, Ritter, Markus, Garavaglia, Maria L, Fugazzola, Laura, Persani, Luca, Zorowka, Patrick, Storelli, Carlo, Beck-Peccoz, Paolo, Bottá, Guido, Paulmichl, Markus
Format: Journal Article
Language:English
Published: Germany 01.01.2006
Subjects:
Biological Transport - drug effects
Cell Line
Chlorides - metabolism
Fluoresceins - metabolism
Fluorometry - methods
Green Fluorescent Proteins - genetics
Green Fluorescent Proteins - metabolism
Humans
Hydrogen-Ion Concentration
Iodides - metabolism
Membrane Transport Proteins - genetics
Membrane Transport Proteins - metabolism
Mutagenesis, Site-Directed - methods
Recombinant Fusion Proteins - genetics
Recombinant Fusion Proteins - metabolism
Sulfate Transporters
Transfection
ISSN:1015-8987
Online Access:Get more information
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Summary: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.
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ISSN:1015-8987
DOI:10.1159/000095164