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) is...
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References
Agamy O, Ben Zeev B, Lev D et al (2010) Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet 87(4):538–544
Arbogast S, Beuvin M, Fraysse B et al (2009) Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol 65:677–686
Bellinger FP, Raman AV, Reeves MA et al (2009) Regulation and function of selenoproteins in human disease. Biochem J 422:11–22
Burk RF, Hill KE, Olson GE et al (2007) Deletion of apolipoprotein E receptor-2 in mice lowers brain selenium and causes severe neurological dysfunction and death when a low-selenium diet is fed. J Neurosci 27:6207–6211
Castets P, Lecsure A, Guicheney P, Allamand V (2012) Selenoprotein N in skeletal muscle: from disease to function. J Mol Med. (Pubmed ahead of print)
Hill KE, Zhou J, McMahan WJ et al (2003) Deletion of selenoprotein P alters distribution of selenium in the mouse. J Biol Chem 278:13640–13646
Huang Z, Rose AH, Hoffmann PR (2012) The role of selenium in inflammation and immunity: from molecular mechanisms to therapeutic opportunities. Antioxid Redox Signal 16(7):705–743
Lobanov AV, Hatfield DL, Gladyshev VN (2009) Eukaryotic selenoproteins and selenoproteomes. Biochim Biophys Acta 1790:1424–1428
Lu J, Holmgren A (2009) Selenoproteins. J Biol Chem 284:723–727
Nakayama A, Hill KE, Austin LM et al (2007) All regions of mouse brain are dependent on selenoprotein P for maintenance of selenium. J Nutr 137:690–693
Papp LV, Lu J, Holmgren A, Khanna KK (2007) From selenium to selenoproteins: synthesis, identity and their role in human health. Antioxid Redox Signal 9(7):775–806
Rayman MP (2012) Selenium and human health. Lancet 379:1256–1268
Reeves MA, Bellinger FP, Berry MJ (2010) The neuroprotective functions of selenoprotein M and its role in cytosolic calcium regulation. Antioxid Redox Signal 12(7):809–818
Schoenmakers E, Agostini M, Mitchell C (2010) Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest 120(12):4220–4235
Valentine WM, Abel TW, Hill KE et al (2008) Neurodegeneration in mice resulting from loss of functional selenoprotein P or its receptor apolipoprotein E receptor 2. J Neuropathol Exp Neurol 67:68–77
Wirth EK, Conrad M, Winterer J et al (2010) Neuronal selenoprotein expression is required for interneuron development and prevents seizures and neurodegeneration. FASEB J 24(3):844–852
Yoo MH, Gu X, Xu XM et al (2010) Delineating the role of glutathione peroxidase 4 in protecting cells against lipid hydroperoxide damage and in Alzheimer's disease. Antioxid Redox Signal 12(7):819–827
Zachara BA, Pawluk H, Bloch-Boguslawska E et al (2001) Tissue level, distribution, and total body selenium content in healthy and diseased humans in Poland. Arch Environ Health 56:461–466
Zhang Y, Zhou Y, Schweizer U et al (2008) Comparative analysis of selenocysteine machinery and selenoproteome gene expression in mouse brain identifies neurons as key functional sites of selenium in mammals. J Biol Chem 283:2427–2438
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Birk, O.S. (2013). Selenocysteinopathies. In: Kretsinger, R.H., Uversky, V.N., Permyakov, E.A. (eds) Encyclopedia of Metalloproteins. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1533-6_446
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DOI: https://doi.org/10.1007/978-1-4614-1533-6_446
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