Encyclopedia of Metalloproteins

2013 Edition
| Editors: Robert H. Kretsinger, Vladimir N. Uversky, Eugene A. Permyakov

Selenocysteinopathies

Reference work entry
DOI: https://doi.org/10.1007/978-1-4614-1533-6_446

Synonyms

Definition

Selenocysteinopathies are human diseases caused by defects in formation and function of selenium-containing proteins (selenoproteins).

Disorders of Selenium Deficiency

Selenoproteins (selenium-containing proteins) have a wide range of pleiotropic effects, ranging from antioxidant and anti-inflammatory effects to the production of active thyroid hormone (Rayman 2012). Selenium deficiency has been implicated in neuromuscular disorders, male infertility, decreased immune and thyroid function, as well as increased risk for cancer, infection, and HIV progression (Rayman 2012; Papp et al. 2007; Huang et al. 2012). Notably, myxedematous cretinism (mental and growth retardation) has been attributed to combined selenium and iodine deficiency (Rayman 2012), while a fatal form of Coxsackie B–induced cardiomyopathy (Keshan disease)...

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References

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Head, Genetics Institute, Soroka Medical Center Head, Morris Kahn Center for Human Genetics, NIBN and Faculty of Health Sciences, Ben Gurion UniversityBeer ShevaIsrael