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Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate

By Murray, H, Edward

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Book Id: WPLBN0000157841
Format Type: PDF eBook
File Size: 0.2 MB
Reproduction Date: 2005
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Title: Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate  
Author: Murray, H, Edward
Language: English
Subject: Government publications, United Nations., United Nations. Office for Disarmament Affairs
Collections: Government Library Collection, Disarmament Documents
Publication Date:
Publisher: United Nations- Office for Disarmament Affairs (Unoda)


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Murray, H. E. (n.d.). Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate. Retrieved from

Government Reference Publication

Excerpt: Perchlorate has been detected in groundwater in many parts of the United States, and recent detection in vegetable and dairy food products indicates that contamination by perchlorate is more widespread than previously thought. Perchlorate is a competitive inhibitor of the sodium iodide symporter, the thyroid cell?surface protein responsible for transporting iodide from the plasma into the thyroid. An estimated 4.3% of the U.S. population is subclinically hypothyroid, and 6.9% of pregnant women may have low iodine intake. Congenital hypothyroidism affects 1 in 3,000 to 1 in 4,000 infants, and 15% of these cases have been attributed to genetic defects. Our objective in this review is to identify genetic biomarkers that would help define subpopulations sensitive to environmental perchlorate exposure. We review the literature to identify genetic defects involved in the iodination process of the thyroid hormone synthesis, particularly defects in iodide transport from circulation into the thyroid cell, defects in iodide transport from the thyroid cell to the follicular lumen (Pendred syndrome), and defects of iodide organification. Furthermore, we summarize relevant studies of perchlorate in humans. Because of perchlorate inhibition of iodide uptake, it is biologically plausible that chronic ingestion of perchlorate through contaminated sources may cause some degree of iodine discharge in populations that are genetically susceptible to defects in the iodination process of the thyroid hormone synthesis, thus deteriorating their conditions. We conclude that future studies linking human disease and environmental perchlorate exposure should consider the genetic makeup of the participants, actual perchlorate exposure levels, and individual iodine intake/excretion levels. Key words: genetic susceptibility, hypothyroidism, mutations, NIS, Pendred syndrome, pendrin, perchlorate, thyroid gland, TPO. Environ Health Perspect 113:1479?1484 (2005). doi:10.1289/ehp.8076 [29 June 200].


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