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2010, Number 3

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Rev Cub Gen 2010; 4 (3)

Evaluation of oxidative stress biomarkers in paediatric Down Syndrome patients

Martínez RA, Riverón FG, Pupo BJ, Lantigua CA, Martínez BO

Language: Spanish
References: 28
Page: 23-28
PDF size: 357.08 Kb.


ABSTRACT

Down Syndrome is the most common chromosomopathy and the leading cause of mental retardation of genetic cause in worldwide and in Cuba. The mechanisms by which trisomy 21 leads to its characteristic phenotype are unclear. In this regard, the involvement of reactive oxygen species has been proposed as one of the mechanisms involved in pathogenesis. It has been reported that overexpression of at least 10 genes on chromosome 21 are associated with oxidative stress. One of these genes is the SOD1 gene that encodes an important enzyme in the cellular antioxidant system. The aim of this study was to evaluate some oxidative stress biomarkers in Down syndrome patients. The universe of study included 36 children (0-5 years), 12 SD patients and 24 control subjects, from Havana City. Informed consent was obtained from all parents of children who participated in this study. It were determined plasmatic levels of Malondialdehyde, Advanced Oxidation Protein Products, Total Thiols and intraerythrocytic enzymatic activities of Cu/Zn Superoxide Dismutase, Catalase and Glutathione Reductase by spectrophotometric methods. It was found statistically increases in Cu/Zn Superoxide Dismutase and Catalase activities and high plasmatic levels of total thiols in Down syndrome group. The activity of the others enzymes tested, the ratio of Cu/Zn Superoxide Dismutase to Catalase and oxidative damage markers in the Down syndrome patients were not different from the control group. It was obtained an increase in Cu/ Zn Superoxide Dismutase activity in paediatric Down syndrome’s patients, could be related with presence of extra copy of chromosome 21.


REFERENCES

  1. Gardiner KJ. Molecular basis of pharmacotherapies for cognition in Down syndrome. Trends Pharmacol Sci. 2010 Feb;31(2):66-73.

  2. Tianoa L, Padellab L, Carnevalib P, Gabriellib O, Brugea F, Principia F, Littarrua GP. Coenzyme Q10 and oxidative imbalance in Down syndrome: Biochemical and clinical aspects. BioFactors. 2008;32(1-4):161-7.

  3. Slonima DK, Koidec K, Johnson KL, Tantravahid U, Cowanc JM, Jarrahc Z and Bianchic DW. Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses. Proc. Natl Acad Sci USA. 2009;June 9;106(23):9425–9.

  4. Wiseman FK, Alford KA, Tybulewicz VL and M.C. Fisher E. Down syndrome—recent progress and future prospects. Hum Mol Genet. 2009;18(R1):R75–R83.

  5. Antonarakis SE, Lyle R, Dermitzakis ET. Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004;5:725-38.

  6. Dierssen M, Herault Y, Estivill X. Aneuploidy: From a Physiological Mechanism of Variance to Down syndrome. Physiol Rev. 2009;89:887–920.

  7. Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet. 2009; 126:195–214.

  8. Moncaster JA, Pineda R, Moir RD. Alzheimer’s Disease Amyloid-β Links Lens and Brain Pathology in Down Syndrome. PLoS One. 2010;5(5):1-13.

  9. Aït Yahya-Graison E, Aubert J, Dauphinot L, Rivals I , Prieur M , Golfier G, Rossier J, Personnaz L. Classification of Human Chromosome 21 Gene-Expression Variations in Down syndrome: Impact on Disease Phenotypes. Am J Hum Genet. 2007;81(3):475-91.

  10. Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, et al. Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet. 2009;17:454–66.

  11. Lopes Pereira P, Magnol L, Sahún I. A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of Down syndrome. Hum Mol Genet .2009;18(24):4756–69.

  12. Korenberg JR, Chen X, Schipper N, Sun R, Gonsky ZR. Down syndrome phenotypes: The consequences of chromosomal imbalance. Proc Nat Acad Sci. 1994;91:4997-5001.

  13. Roper RJ, Reeves RH. Understanding the Basis for Down syndrome Phenotypes. PLoS Genetics. 2006;2(3):0231-6.

  14. Pastor MC, Sierra C, Dolade M, Navarro E, Brandi N, Cabre´ E, Mira A, Sere´s A. Antioxidant enzymes and fatty acid status in erythrocytes of Down syndrome patients. Clin Chem.1998;44(5):924–9.

  15. Perrone S, Longini M, Bellieni CV, Centini G, Kenanidis A, De Marco L, Petraglia F, Buonocore G. Early oxidative stress in amniotic fluid of pregnancies with Down syndrome. Clin Biochem. 2007;40:177–80.

  16. 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.

  17. Rozovski U, Jonish-Grossman A, Bar-Shira A, Ochshorn Y, Goldstein M, Yaron Y. Genome-wideexpression analysis of cultured trophoblast with trisomy 21 karyotype. Hum Reprod. 2007 Sep;22(9):2538-45.

  18. Rong Mao, Xiaowen Wang, Edward L Spitznagel Jr, Laurence P Frelin, Jason C Ting, Huashi Ding et al. Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biol. 2005;6(13):R107.

  19. Gerich FJ, Funke F, Hildebrandt B, Faßhauer M, Müller M. H(2)O(2)-mediated modulation of cytosolic signaling and organelle function in rat hippocampus. Eur J Physiol. 2009 Sep;458(5):937-52.

  20. Witko-Sarsat V, Friedlander M, Nguyen KT, Capeille`re-Blandin C, Nguyen AT, Canteloup S, et al. Advanced oxidation protein products as novel mediators of inflammation and monocytes activation in chronic renal failure. J Immunol. 1998 Sep 1;161(5):2524-32.

  21. Marklund S, Marklund G. Involvement of superoxide anion radical in the autoxidation of pyrogallol and a convenient assay for superoxide dismutase. Eur J Biochem. 1974;47:469-74.

  22. Aebi H. Catalase in vitro. Meth Enzymol. 1984;105:121-6.

  23. Carlberg I, Mannervik B. Glutathione reductase. Meth Enzymol. 1985;113:484-90.

  24. Sedlak J, Lidsay RH. Estimation of total protein bound and non-protein sulfhydryl group in tissue with Ellman’s reagent. Anal Biochem. 1968;25:192-205.

  25. Hirano M, Hung WY, Cole N, Azim AC, Deng HX and Siddique T. Multiple Transcripts of the Human Cu,Zn Superoxide Dismutase Gene. Biochem Biophys Res Commun. 2000 Sep 16;276(1):52-6.

  26. Netto CB, Siqueira IR, Fochesatto C, Portela LV, Purificação MT, Souza DO, Giugliani R, Gonçalves CA. S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome. Clin Biochem. 2004 Feb;37(2):134-7.

  27. Haugaard N. Reflections on the Role of the Thiol Group in Biology. Ann New York Academy of Sciences. 2000;899:148- 58.

  28. Reed MC, Thomas RL, Pavisic J, James SJ, Ulrich CM, Nijhout HF. A mathematical model of glutathione metabolism. Theor Biol Med Model. 2008 Apr;28(5):8.




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