The MnSOD Ala16Val SNP: Relevance to human diseases and interaction with environmental factors

Abstract The relevance of reactive oxygen species (ROS) production relies on the dual role shown by these molecules in aerobes. ROS are known to modulate several physiological phenomena, such as immune response and cell growth and differentiation; on the other hand, uncontrolled ROS production may c...

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Bibliographic Details
Published in:Free radical research 2013-10, Vol.47 (10), p.781-792
Main Authors: Bresciani, G., Cruz, I. B. M., de Paz, J. A., Cuevas, M. J., González-Gallego, J.
Format: Article
Language:English
Subjects:
Animals
antioxidant enzymes
Antioxidants - metabolism
Environmental Exposure
health conditions
Humans
nature and nurture
Oxidative Stress
Polymorphism, Single Nucleotide
Reactive Oxygen Species - metabolism
Superoxide Dismutase - genetics
Superoxide Dismutase - metabolism
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Summary:Abstract The relevance of reactive oxygen species (ROS) production relies on the dual role shown by these molecules in aerobes. ROS are known to modulate several physiological phenomena, such as immune response and cell growth and differentiation; on the other hand, uncontrolled ROS production may cause important tissue and cell damage, such as deoxyribonucleic acid oxidation, lipid peroxidation, and protein carbonylation. The manganese superoxide dismutase (MnSOD) antioxidant enzyme affords the major defense against ROS within the mitochondria, which is considered the main ROS production locus in aerobes. Structural and/or functional single nucleotide polymorphisms (SNP) within the MnSOD encoding gene may be relevant for ROS detoxification. Specifically, the MnSOD Ala16Val SNP has been shown to alter the enzyme localization and mitochondrial transportation, affecting the redox status balance. Oxidative stress may contribute to the development of type 2 diabetes, cardiovascular diseases, various inflammatory conditions, or cancer. The Ala16Val MnSOD SNP has been associated with these and other chronic diseases; however, inconsistent findings between studies have made difficult drawing definitive conclusions. Environmental factors, such as dietary antioxidant intake and exercise have been shown to affect ROS metabolism through antioxidant enzyme regulation and may contribute to explain inconsistencies in the literature. Nevertheless, whether environmental factors may be associated to the Ala16Val genotypes in human diseases still needs to be clarified.
ISSN:1071-5762
1029-2470
DOI:10.3109/10715762.2013.836275