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Antioxidative metabolism in down syndrome
Authors:Fulya Tek?en  Bekir Sitki ?ayli  Ahmet Aydin  Ahmet Sayal  A?kin I?imer
Institution:(1) Faculty of Medicine, Gynecology and Obstetrics Department, Ankara University, Cebeci, Ankara, Türkiye;(2) Faculty of Medicine, Medical Biology Department, Genetics Section, Ankara University, Sihhiye, Ankara, Türkiye;(3) Department of Pharmaceutical Toxicology, Gülhane Military Medical Academy, Etlik, Ankara, Türkiye
Abstract:Down syndrome is the most common cause of mental retardation, affecting 1 in 700–800 liveborn infants. Although numerous biochemical abnormalities accompanying the syndrome have not yet been completely clarified, the antioxidant defense system enzymes have shown to be altered due to increased gene dosage on chromosome 21 and overproduction of superoxide dismutase (SOD-1 or Cu/Zn SOD). The purpose of this study was to investigate the activities of SOD-1 and glutathione peroxidase (GSH-Px) enzymes and the levels of their cofactors zinc (Zn), copper (Cu) and selenium (Se) in plasma of 20 Down syndrome patients. In comparison with age and sex-matched controls (n=15), plasma GSH-Px, SOD, and Cu levels were significantly decreased in the patient group, but Zn and Se concentrations remained unchanged. This study was presented as a poster in 29th Annual Meeting of European Society of Human Genetics held in Genoa in May, 1997.
Keywords:Down syndrome  superoxide dismutase  glutathione peroxidase  zinc  copper  selenium
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