TY - JOUR
T1 - Pendred syndrome and iodide transport in the thyroid
AU - Kopp, Peter
AU - Pesce, Liuska
AU - Solis-S, Juan Carlos
N1 - Funding Information:
This work has been supported by grants from the National Institute of Diabetes and Digestive and Kidney Diseases/National Institutes of Health (1R01 DK63024–01 to P.K.), and a 2007 Endocrine Fellows Foundation Grant “Regulation of Pendrin by Thyrotropin in Thyroid Cells” (to L.P.).
PY - 2008/9
Y1 - 2008/9
N2 - Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. This review discusses the controversies surrounding the potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and discusses its functional role in the kidney and the inner ear.
AB - Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. This review discusses the controversies surrounding the potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and discusses its functional role in the kidney and the inner ear.
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U2 - 10.1016/j.tem.2008.07.001
DO - 10.1016/j.tem.2008.07.001
M3 - Review article
C2 - 18692402
AN - SCOPUS:49649096773
SN - 1043-2760
VL - 19
SP - 260
EP - 268
JO - Trends in Endocrinology and Metabolism
JF - Trends in Endocrinology and Metabolism
IS - 7
ER -
