Sulfate transport is not impaired in pendred syndrome thyrocytes.
Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory-neural deafness. The gene responsible for the disease (PDS) has been cloned, but its function is as yet unknown and the connection between thyroid goiter and sensory-neural deafness remains an enigma. PDS codes for a novel protein, pendrin, which is closely related to a number of sufate transporters. Mechanisms by which abnormal sulfate transport could deleteriously affect iodide organification have been proposed. We tested sulfate transport in thyrocytes obtained from Pendred syndrome patients and found that it was not defective. This suggests that pendrin in fact may not be a sulfate transporter, and emphasizes the importance of functional studies on this novel protein.
Kraiem
Z
Z
Endocrine Research Unit, Carmel Medical Center, Faculty of Medicine, Technion, Haifa, Israel.
Heinrich
R
R
Sadeh
O
O
Shiloni
E
E
Nassir
E
E
Hazani
E
E
Glaser
B
B
D001692:Biological Transport; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D002478:Cells, Cultured; D003638:Deafness / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D006042:Goiter / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D026901:Membrane Transport Proteins; D009154:Mutation; D000076988:Sulfate Transporters; D013431:Sulfates / Q000378:metabolism*; D013577:Syndrome; D013961:Thyroid Gland / Q000378:metabolism*
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates