Nowak Tomasz, Niemiec Paweł, Zak Iwona
Zakład Biochemii i Genetyki Medycznej, Slaski Uniwersytet Medyczny w Katowicach.
Wiad Lek. 2013;66(1):10-7.
The significant amounts of reactive oxygen species (ROS), mainly superoxide anion (O2*-), are produced each day in the human body. ROS play many important and beneficial functions, but they can also contribute to the development of many diseases, including those with atherosclerotic background. Vascular and phagocytic NADPH oxidases are a multicomponent enzymatic complexes which are the main source of O2*- in the vasculature. The p22phox subunit plays an important role in the functioning of these enzymes and is encoded by the CYBA gene (cytochrome b-alpha). In recent years, it was shown the presence of multiple genetic polymorphisms in the CYBA gene, including variants: -930A>G, -852C>G, -675A>T, -536C>T, *24A>G, 521C>T and 214C>T. The functional and association studies were conducted in many research centers from around the world, as a result of these findings. The aim of the present study was to summarize of the available information on the CYBA gene, function of its polymorphisms and their associations with atherosclerosis-related diseases.
人体每天都会产生大量的活性氧(ROS),主要是超氧阴离子(O2*-)。ROS发挥着许多重要且有益的功能,但它们也可能促成多种疾病的发展,包括那些具有动脉粥样硬化背景的疾病。血管和吞噬细胞NADPH氧化酶是多组分酶复合物,是血管系统中O2*-的主要来源。p22phox亚基在这些酶的功能中起重要作用,由CYBA基因(细胞色素b-α)编码。近年来,研究表明CYBA基因存在多种基因多态性,包括-930A>G、-852C>G、-675A>T、-536C>T、*24A>G、521C>T和214C>T等变体。基于这些发现,世界各地的许多研究中心都开展了功能和关联性研究。本研究的目的是总结关于CYBA基因的现有信息、其多态性的功能以及它们与动脉粥样硬化相关疾病的关联。