| Genetics and phenomics of Pendred syndrome. | |
| | |
MedLine Citation:
|
PMID: 20298745 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in iodide organification. Goiter development and hypothyroidism vary and appear to depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. Pendrin is mainly expressed in the thyroid, the inner ear, and the kidney. In the thyroid, pendrin localizes to the apical membrane of thyrocytes, where it may be involved in mediating iodide efflux. Loss-of-function mutations in the SLC26A4 gene are associated with a partial iodide organification defect, presumably because of a reduced iodide efflux into the follicular lumen. In the kidney, pendrin functions as a chloride/bicarbonate exchanger. In the inner ear, pendrin is important in the maintenance of a normal anion transport and the endocochlear potential. Elucidation of the function of pendrin has provided unexpected novel insights into the pathophysiology of thyroid hormone biosynthesis, chloride retention in the kidney, and composition of the endolymph. |
| | |
Authors:
|
Aigerim Bizhanova; Peter Kopp |
Related Documents
:
|
9002665 - Mutations in the gene encoding the inwardly-rectifying renal potassium channel, romk, c... 12548735 - Exclusion of rnx as a major gene in congenital central hypoventilation syndrome (cchs, ... 21334405 - Continuous recurrence of type 1 hepatorenal syndrome and long-term treatment with terli... 8700545 - Structurally altered evi-1 protein generated in the 3q21q26 syndrome. 2873715 - The neuroleptic malignant syndrome: agent and host interaction. 6823665 - Endoscopic sphincterotomy for the treatment of biliary sump syndrome. |
Publication Detail:
|
Type: Journal Article; Review Date: 2010-03-15 |
Journal Detail:
|
Title: Molecular and cellular endocrinology Volume: 322 ISSN: 1872-8057 ISO Abbreviation: Mol. Cell. Endocrinol. Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-05-17 Completed Date: 2010-08-13 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7500844 Medline TA: Mol Cell Endocrinol Country: Ireland |
Other Details:
|
Languages: eng Pagination: 83-90 Citation Subset: IM |
Copyright Information:
|
Copyright 2010 Elsevier Ireland Ltd. All rights reserved. |
Affiliation:
|
Division of Endocrinology, Metabolism and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Tarry 15, 303 East Chicago Avenue, Chicago, IL 60611, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Goiter
/
genetics*,
metabolism Hearing Loss, Sensorineural / genetics*, metabolism Humans Iodides / metabolism* Membrane Transport Proteins / genetics*, metabolism Phenotype Syndrome Thyroid Gland / metabolism |
| Chemical | |
Reg. No./Substance:
|
0/Iodides; 0/Membrane Transport Proteins; 0/SLC26A4 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Seasonal breeding as a neuroendocrine model for puberty in sheep.
Next Document: Trends in puberty timing in humans and environmental modifiers.