Document Detail


Pendred syndrome and iodide transport in the thyroid.
MedLine Citation:
PMID:  18692402     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Peter Kopp; Liuska Pesce; Juan Carlos Solis-S
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review     Date:  2008-08-07
Journal Detail:
Title:  Trends in endocrinology and metabolism: TEM     Volume:  19     ISSN:  1043-2760     ISO Abbreviation:  Trends Endocrinol. Metab.     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-08-25     Completed Date:  2008-10-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9001516     Medline TA:  Trends Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  260-8     Citation Subset:  IM    
Affiliation:
Division of Endocrinology, Metabolism and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60614, USA. p-kopp@northwestern.edu
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MeSH Terms
Descriptor/Qualifier:
Goiter / genetics*,  metabolism*
Hearing Loss, Sensorineural / genetics,  metabolism
Humans
Iodides / metabolism*
Membrane Transport Proteins / genetics*,  metabolism*
Syndrome
Thyroid Gland / metabolism
Grant Support
ID/Acronym/Agency:
1R01 DK63024-01/DK/NIDDK NIH HHS
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


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