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ISSN 2070-8718 (Print)

2014, Number 1

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Rev Cub Gen 2014; 8 (1)

Cytosolic superoxide dismutase and genetic diseases

Castillo CY, Riverón FG

Language: Spanish
References: 30
Page: 5-11
PDF size: 308.25 Kb.


ABSTRACT

After their exposure to an oxygen-rich atmosphere, organisms developed antioxidant self-defense systems capable to counteract the toxicity that oxygen-reactive species may develop. Components of the antioxidant system are diverse, the most studied among them have been the so-called primary antioxidants, that eliminate or prevent the formation of these reactive species. The superoxide dismutases form part of this group, which catalyze with a high efficiency the superoxide anion dismutation reaction and are the only known enzymes that act on a radical. Within this group, superoxide dismutase 1 forms part of the front antioxidant defense line at a cytosolic level and its activity variations turn out to be harmful for the human organism. In this review an update of the studies carried out related to superoxide dismutase 1 and its link up with the pathogenesis of some genetic diseases are presented.


REFERENCES

  1. Dröge W. Free Radicals in the Physiological Control of Cell Function. Physiol Rev. 2002;82:47–95.1.

  2. Jones DP. Redefining Oxidative Stress. Antioxidants&RedoxSignaling 2006; 8:1865-79.

  3. Rani PK,Meena U,KarthikeyanJ. Evaluation of antioxidant properties of berries. Indian Journal of Clinical Biochemistry. 2004;19(2):103-10.

  4. Berg JM,Tymoczko JL, Stryer L. Biochemistry. 6th ed. New York: W.H. Freeman and company; 2006.

  5. Teoh-Fitzgerald M LT, Fitzgerald MP, Jensen TJ, Futscher BW, Domann FE. Genetic and Epigenetic Inactivation of Extracellular Superoxide Dismutase Promotes an Invasive Phenotype in Human Lung Cancer by Disrupting ECM Homeostasis. Molecular Cancer Reserch. 2012;10(40).

  6. Milani P, Gagliardi G, Cova E, Cereda C. SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS. Neurology Research International. 2011; 2011:1-9.

  7. Tamari Y, Nawata H, Inoue E, Yoshimura A, Yoshii H, Kashino G, Seki M, et al. Protective roles of ascorbic acid in oxidative stress induced by depletion of superoxide dismutase in vertebrate cells. Free Radical Research. 2013;47(1):1-7.

  8. Nikolić-Kokić A, Blagojević D, Spasić MB. Complexity of free radical metabolism in human erythrocytes. J Med Biochem. 2010;29:189-95.

  9. Iuchi Y. Anemia Caused by Oxidative Stress, Anemia, Dr. Donald Silverberg (Ed.), ISBN: 978-953-51-0138-3. DOI: 10.5772/31404, 2012. URl disponible en: http://www.intechopen.com/books/anemia/anemia-caused-byoxidative-stress.

  10. Marucci G,Morandi L, Bartolomei I, Salvi F, Pession A, Righi A, et al. Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome. Neuromuscular Disorders. 2007; 17:673–6.

  11. Choi C, Rees DH, Weintraub TS, Levey IA, Chin LS, Li L. Oxidative modification and aggregation of Cu,Zn-Superoxide Dismutase Associated with Alzheimer and Parkinson Diseases. The Journal of Biological Chemistry. 2005;280:11648-55.

  12. Wilcox CK, Zhou L, Jordon KJ, Huang Y, Yu Y, Redler LR, et al. Modifications of Superoxide Dismutase (SOD1) in Human Erythrocytes a possible role in Amyotrophic Lateral Sclerosis. The Journal of Biological Chemistry. 2009 May 15;284(20):13940-7.

  13. Muyderman H, Hutson PG, Matusica D, Rogers ML, Rush RA. The human G93A-superoxide dismutase-1 mutation, mitochondrial glutathione and apoptotic cell death. Neurochemical Research. 2009;34(10):1847-56.

  14. Yamakawa K, Shukkur AE, Shimohata A, Akagi T, Yu W, Yamaguchi M, et al.Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Downsindrome. Human Molecular Genetics. 2006;15(18):2752-62.

  15. Martínez A, Riverón G, Pupo J, Lantigua A, Martínez O. Evaluación de marcadores de estrés oxidativo en pacientes con síndrome Down en edad pediátrica. Rev Cubana Genet Comunit. 2010;4(1):23-8.

  16. Florencia MI, Do Carmo S, Ower AK, Fortress AM, Flores AA, Hanna M, Wisniewski T, Granholm A-C, Buhusi M, Busciglio J, Cuello C. Nerve growth factor metabolic dysfunction in Down’s syndrome brains. Brain. 2014;137(3):860-72.

  17. Strydom A, Dickinson MJ, Shende S, Pratico D, Walker Z. Oxidative stress and cognitive ability in adults with Down syndrome. Prog Neu-Psychopharmac Biolog Psychiat. 2009;33(1):76-80.

  18. Cho CK, Drabovich AP, Batruch I, Diamandis EP. Verification of a biomarker discovery approach for detection of Down syndrome in amniotic fluid via multiplex selected reaction monitoring (SRM) assay. Journal of Proteomics. 2011;74:2052-9.

  19. Garlet TR, Parisotto EB, de Medeiros G da S, Pereira LC, Moreira EA, Dalmarco EM, Dalmarco JB, Wilhelm Filho D. Systemic oxidative stress in children and teenagers with Down syndrome. Life Sci. 2013;93(16):558-63.

  20. Ellis MJ, Kuan TH, Gilbert EJ, Muller PR, Henley W, Moy R, et al. Supplementation with antioxidants and folinicacid for children with Down’s syndrome: randomized controlled trial. BMJ. 2008 March 15;336(7644):594-7.

  21. Wood KC, Granger DN. Sickle cell disease: role of reactive oxygen and nitrogen metabolites. Clin Exp Pharmacol Physiol. 2007;34:926-32.

  22. Das EN, Das-Chowdhury T, Chattopadh-Yay A, Datta AG. Attenuation of oxidative stress-induced changes in thalassemic erythrocytes by vitamin E. Polish J Pharmacol. 2004;56:85-96.

  23. Patne AB, Hisalkar PJ, Gaikwad SB, Patil SV. Alterations in antioxidant enzyme status with lipid peroxidation in β thalassemia major patients. International Journal of Pharmacy&LifeSciences. 2012;3(10):1-4.

  24. DhawanV, KumarKhR, Marwaha RK, Ganguly NK. Antioxidant status in children with homozygous thalassemia. Indian Pediatrics. 2005;42:1141-45.

  25. De Franceschi L., Bertoldi M., Matte A., Santos S. F., Pantaleo A., Ferru E. and Turrini F. Oxidative Stress and β-ThalassemicErythroid Cells behind the Molecular Defect. Oxidative Medicine and Cellular Longevity. 2013;2013:1-10.

  26. Shazia Q, Mohammad ZH, RahmanT, Uddin Shekhar H. Correlation of Oxidative Stress with Serum Trace Element Levels and Antioxidant Enzyme Status in Beta Thalassemia Major Patients: A Review of the Literature. Anemia. 2012;2012:1-7.

  27. Zafer Dogan, Huseyin Yildiz, Ismail Coskuner, Murat Uzel, Mesut Garipardic. Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report. Brazilian Journal of Anesthesiology. 2013.

  28. Kumari U, Jun WY, Bay BH, Lyakhovich A. Evidence of mitochondrial dysfunction and impaired ROS detoxifying machinery in Fanconi Anemia cells. Oncogene. 2014;33:65–72.

  29. Hori SY, Kuno A, Hosoda R, Tanno M, Miura T, Shimamoto K, Horio Y. Resveratrol Ameliorates Muscular Pathology in the Dystrophic mdx Mouse, a Model for Duchenne Muscular Dystrophy. Journal of Pharmacology and Experimental Therapeutics. 2011;338(3):784-94.

  30. Pervaiz S, Taneja R, Ghaffari S. Oxidative stress regulation of stem and progenitor cells. Antiox Red Signal. 2009;11(11):2777-88.




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