Book chapter
Pendred's Syndrome: Deficiency in Iodide Transport
Comprehensive Handbook of Iodine, pp.231-241
Elsevier
01/01/2009
DOI: 10.1016/B978-0-12-374135-6.00024-8
Abstract
Pendred's syndrome (OMIM 274600) is an autosomal recessive disorder defined by the triad of congenital deafness, goiter, and a partial defect in iodide organification. Under conditions of normal iodide intake, patients with Pendred's syndrome are usually euthyroid, but if the nutritional iodide supply is scarce, overt hypothyroidism may develop. Pendred's syndrome is caused by mutations in the PDS/SLC26A4 gene, which encodes the anion transporter pendrin. Pendrin is predominantly expressed in the inner ear, the thyroid, and the kidney. In thyroid follicular cells, pendrin localizes to the apical membrane. Functional studies suggest that it is involved in the efflux of iodide into the follicular lumen. Inactivating mutations of pendrin impair the efflux of iodide, and thereby explain the partial organification defect. In the kidney, pendrin acts as a chloride/bicarbonate exchanger. In the inner ear, pendrin is involved in anion and fluid transport, as well as in the maintenance of the endocochlear potential. The elucidation of the molecular basis of Pendred's syndrome is yet another illustration of how the characterization of the molecular basis of a Mendelian disorder can provide fundamental and often unexpected insights into physiology and disease.
Details
- Title: Subtitle
- Pendred's Syndrome: Deficiency in Iodide Transport
- Creators
- Peter Kopp - Northwestern UniversitySabine Schnyder - Northwestern UniversityLiuska Pesce - Northwestern University
- Contributors
- V R Preedy (Editor)G N Burrow (Editor)R R Watson (Editor)
- Resource Type
- Book chapter
- Publication Details
- Comprehensive Handbook of Iodine, pp.231-241
- Publisher
- Elsevier; AMSTERDAM
- DOI
- 10.1016/B978-0-12-374135-6.00024-8
- Number of pages
- 11
- Grant note
- DOI: 10.13039/100015334, name: Endocrine Fellows Foundation
- Language
- English
- Date published
- 01/01/2009
- Academic Unit
- Stead Family Department of Pediatrics; Endocrinology and Diabetes
- Record Identifier
- 9984353826102771
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