Genetics of antioxidant defence

The balance between free radicals and antioxidants activities is the crucial element in the regulation of many processes such as cell growth, development, differentiation and metabolism. It is assumed that dysregulation of that state (oxidative stress) may lead to many diseases and alterations connected with aging, being the cause of molecular, cellular and tissue malfunctions. The aim of this review is to provide insight into the actual reports concerning the function of enzymes involved in the antioxidant defense and the importance of their particular genetic variants in pathogenesis of many disorders. The fact that certain SNPs and mutations in these genes may be the key event in the pathogenesis of many somatic disorders is now well documented and unquestionable. Currently major efforts are taken to test the possibility whether the same mechanisms may be involved in the pathogenesis of neurological and psychiatric diseases. Which is especially important for the latter because of the fact that the origins 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 by PubMed, the authors of these review made an effort to summarize the most important reports concerning the influence of genetic variations in the genes coding proteins which are involved in antioxidant defense mechanisms on human phenotype.