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Genetyka obrony antyoksydacyjnej

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Author(s): Marta Gawłowska | Jolanta Rabe-Jabłońska

Journal: Neuropsychiatria i Neuropsychologia
ISSN 1896-6764

Volume: 3;
Issue: 1;
Start page: 37;
Date: 2008;
Original page

Keywords: oxidative stress | genetic polymorphisms | mutations

ABSTRACT
The balance between free radicals and antioxidantsactivities is the crucial element in the regulation of manyprocesses such as cell growth, development,differentiation and metabolism. It is assumed thatdysregulation of that state (oxidative stress) may lead tomany diseases and alterations connected with aging,being the cause of molecular, cellular and tissuemalfunctions.The aim of this review is to provide insight into theactual reports concerning the function of enzymesinvolved in the antioxidant defense and the importanceof their particular genetic variants in pathogenesis ofmany disorders. The fact that certain SNPs andmutations in these genes may be the key event in thepathogenesis of many somatic disorders is now welldocumented and unquestionable. Currently major effortsare taken to test the possibility whether the samemechanisms may be involved in the pathogenesis ofneurological and psychiatric diseases. Which is especiallyimportant for the latter because of the fact that theorigins of these conditions are still mostly uncertain.Using the HGMD (Human Gene Mutation Database)and OMIM (Online Mendelian Inheritance in Man)databases as well as the plethora of sources provided byPubMed, the authors of these review made an effort tosummarize the most important reports concerning theinfluence of genetic variations in the genes codingproteins which are involved in antioxidant defensemechanisms on human phenotype.
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