Preview

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)

Advanced search

Oxidative stress and mitochondrial dysfunction in the pathogenesis of Down's disease

Abstract

Down's syndrome is one of the most common genetic diseases. Recent studies have indicated that gene dosage effects and imbalance of gene expression underlie the disease. There is a review of the data available in the literature that in Down's syndrome there is oxidative stress that gives rise to oxidative injury and mitochondrial DNA dysfunction and seemingly determines the severity of neurodegenerative disorders. The role of coenzyme Qlo in bioenergy metabolism and the possibility of its use to correct metabolic and psychoneurological disorders in children with Down's syndrome are discussed.

About the Authors

S. N. Stavtseva
Medical Institute, Orel State University
Russian Federation


E. A. Nikolaeva
Research Clinical Institute of Pediatrics, Moscow
Russian Federation


V. S. Sukhorukov
Research Clinical Institute of Pediatrics, Moscow
Russian Federation


References

1. Ворсанова СТ., Юров Ю.Б., Чернышев В.Н. Медицинская цитогенетика. М: Медпрактика-М 2006; 300. (Vorsanova S.G., YUrov YU.B., CHernyshev V.N. Medical cytogenetics. Moscow: Medpraktika-M 2006; 300.)

2. Синдром Дауна. Медико-генетический и социально-психологический портрет. Под ред. Ю.И. Барашнева. М: Триада-Х 2007; 22, 24, 50—51. (Down syndrome. Genetical and socio-psychological portrait. Editor Y.I. Barashnev. Moscow: Triad-X 2007; 22, 24, 50-51.)

3. Вахарловский В.Т., Романенко О.П., Горбунова В.Н. Генетика в практике педиатра. Руководство для врачей. Санкт-Петербург: ООО «Феникс» 2009; 88.

4. Цветков В.О, Новолодская Н.А., Суравешкина КВ. и др. Интегрированный подход к социализации семей с детьми с синдромом Дауна. Детская и подростковая реабилитация 2010; 2: 16—21. (Tsvetkov V.O., Novolodskaya N.A., Suraveshkina N.V. et al. An integrated approach to the socialization of families with children with Down syndrome. Rehabilitation of children and young people, 2010; 2: 16—21.)

5. Zigman W.B.,LottI.T. Alzheimer's disease in Down syndrome: neurobiology and risk. Ment Retard Dev Disabil Res Rev 2007; 13: 3: 237-246.

6. Wiseman F.K., Alford K.A., Tybulewicz, V.L., Fisher E.M. Down syndrome: recent progress and future prospects. Hum Mol Genet 2009; 18: R75—R83.

7. Чубарова А.И., Семенова Н.А., Катюхина А.В. Медицинское сопровождение взрослых с синдромом Дауна. Синдром Дауна XXI век, 2011; 1: 6: 11—15. (Chubarova A.I., SemenovaNA., Katyuhina A. V. Medical follow-up of adults with Down syndrome. Down syndrome XXI century, 2011; 1: 6:11-15.)

8. Perluigi M., Butterfield D.A. Oxidative Stress and Down Syndrome: A Route toward Alzheimer-Like Dementia. Curr Gerontol Geriatr Res 2012; 2012: 724904. doi: 10.1155/2012/724904.

9. Zis P., Dickinson M., Shende S. et al. Oxidative stress and memory decline in adults with Down syndrome: longitudinal study. J Alzheimers Dis 2012; 31: 2: 277—283.

10. Pritchard M.A., Kola I. The "gene dosage effect" hypothesis versus the "amplified developmental instability" hypothesis in Down syndrome. J Neural Transm Suppl 1999; 57: 293—303.

11. Coskun P.E., Busciglio J. Oxidative Stress and Mitochondrial Dysfunction in Down's Syndrome: Relevance to Aging and Dementia. Curr Gerontol Geriatr Res 2012; 2012: 383170. doi: 10.1155/2012/383170

12. Gardiner K.J. Molecular basis of pharmacotherapies for cognition in Down syndrome. Trends Pharmacol Sci 2010; 31:66.

13. http://www.ncbi.nlm.nih.gov/omim.org/entry/190685

14. Korbel J.O., Tirosh-Wagner Т., Urban A.E.,et al. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci USA 2009; 106: 12031-12036.

15. van Bon В., Hoischen A., Hehir-Kwa J. et al. Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet 2011; 79: 296—299.

16. Hsia D., Nadler H, Shih L. Biochemical changes in chromosomal abnormalities. Ann NY Acad Sci 1968; 171: 526-536.

17. Feaster W.W., Kwok L.W., Epstein C.J. Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21. Am J Hum Genet 1977; 29: 6: 563—570.

18. AntilaE., Westermarck T. On the etiopathogenesis and therapy of Down syndrome. Int JDevBiol 1989; 33: 1: 183—188.

19. Midorikawa K, Kawanishi S. Superoxide dismutases enhance H2O2-induced DNA damage and alter its site specificity. FEBS Lett 2001; 495: 3: 187-190.

20. Ermak G., Cheadle C, Becker KG. et al. DSCR1 (Adapt78) modulates expression of SOD1. FASEB J 2004; 18: 1: 62—69.

21. Arbuzova S., Hutchin Т., CuckleH. Mitochondrial dysfunction and Down's syndrome. BioEssays 2002; 24: 8: 681—684.

22. Thiel R., Fowkes S.W. Can cognitive deterioration associated with Down syndrome be reduced? Med Hypotheses 2005; 64: 3: 524-532.

23. Lott I.T., Head E., Doran E., Busciglio J. Beta-amyloid, oxidative stress and down syndrome. Curr Alzheimer Res 2006; 3: 5: 521-528.

24. Perluigi M., di Domenico F, Fiorini A. et al. Oxidative stress occurs early in Down syndrome pregnancy: A redox proteomics analysis of amniotic fluid. Proteomics Clin Appl 2011; 5: 3-4: 167-178.

25. Valenti D., Manente G.A., Moro L. et al. Deficit of complex I activity in human skin iibroblasts with chromosome 21 • trisomy and overproduction of reactive oxygen species by mitochondria: involvement of the cAMP/PKA signalling pathway. Biochem J2011; 435: 3: 679—688.

26. Pagano G., Castello G. Oxidative stress and mitochondrial dysfunction in Down syndrome. Adv Exp Med Biol 2012; 724: 291-299.

27. Garlet T.R., Parisotto E.B., de Medeiros G.S. et al. Systemic oxidative stress in children and teenagers with Down syndrome. Life Sci2013; 93: 16: 558—563.

28. Wallace D.C, Fan W., Procaccio V. Mitochondrial energetics and therapeutics. Ann Rev Pathol 2010; 5: 297—348.

29. Venditti P., DiStefano L., DiMeo S. Mitochondrial metabolism of reactive oxygen species. Mitochondrion 2013; 13: 2: 71— 82.

30. Howell N., Elson J.L., Chinnery P.F., Tumbull D.M. mtDNA mutations and common neurodegenerative disorders. Trends in Genetics 2005; 21: 11: 583—586.

31. Coskun P., Wyrembak J., Schriner S. et al. A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta2012; 1820:5:553-564.

32. Prince J., Jia S., Bave U. et al. Mitochondrial enzyme deficiencies in Down's syndrome. J Neural Transm Park Dis Dement Sect 1994; 8: 3: 171-181.

33. Busciglio J., Pelsman A., Wong С et al. Altered metabolism of the amyloid beta precursor protein is associated with mitochondrial dysfunction in Down's syndrome. Neuron 2002; 33: 5: 677-688.

34. Roat E., Prada N., Ferraresi R. et al. Mitochondrial alterations and tendency to apoptosis in peripheral blood cells from children with Down syndrome. FEBS Letters 2007; 581: 3: 521-525.

35. Aburawi E.H., Souid A.K. Lymphocyte respiration in children with Trisomy 21. BMC Pediatr 2012; 12: 193. doi: 10.1186/1471-2431-12-193.

36. Druzhyna N., Nair R.G., LeDoux S.P., Wilson G.L. Defective repair of oxidative damage in mitochondrial DNA in Down's syndrome. MutatRes 1998; 409: 2: 81—89.

37. Ordoiez-Munoz, F.J., Rosety-Rodriguez, M., Rosety-Rodriguez, J.M., Rosety-Plaza M. Anthropometrical measurements as predictor of serum lipid profile in adolescents with Down syndrome. Rev Invest Clin 2005; 57: 5: 691—694.

38. Adelekan Т., MaggeS., ShultsJ. etal. Lipid profiles of children with Down syndrome compared with their siblings. Pediatrics 2012;129:6:el382-1387.

39. Miles M.V., Patterson B.J., Chalfonte-Evans M.L. et al. Coenzyme Q10 (ubiquinol-10) supplementation improves oxidative imbalance in children with trisomy 21. Pediatr Neural 2007; 37: 6: 398-403.

40. Tiano L., Padella L., Carnevali P. et al. Coenzyme Q10 and oxidative imbalance in Down syndrome: biochemical and clinical aspects. Biofactors 2008; 32: 1-4: 161—167.

41. ErnsterL., Dallner G. Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta 1995; 1271: 195-204.

42. Crane F.L. Biochemical functions of coenzyme Q10. J Am Coll Nutr 2001; 20: 6: 591-598.

43. Quinzii C.V., Hirano M., DiMauro S. CoQIO deficiency diseases in adults. Mitochondrion 2007; 7: Suppl: 122—126.

44. Beyer R.E. The participation of coenzyme Q in free radical production and antioxidation. Free Radic Biol Med 1990; 8: 545—565

45. Frei В., Kim M., Ames B.N. Ubiquinol-10 is an elective lipid-soluble antioxidant at physiological concentrations. Proc Natl Acad Sci 1990; 87: 4879-4883.

46. Molyneux S.L., Yong J.M., Florkowski CM. et al. Coenzyme Q10: is there a clinical role and a case for measurement? Clin Biochem Rev 2008; 29: 71—82.

47. Ishii N., Senoo-Matsuda N., Miyake K. et al. Coenzyme Q10 can prolong C. elegans lifespan by lowering oxidative stress. Mech Ageing Dev 2004; 125: 1: 41—46.

48. LittarruG.P, 27аио X. Bioenergetic and antioxidant properties of coenzyme Q10: recent developments. Mol Biotechnol 2007; 37: 1: 31-37.

49. Lenaz, G., DAurelio M., Merlo Pich M. et al. Mitochondrial bioenergetics in aging. Biochim Biophys Acta 2000; 1459: 2-3: 397-404.

50. Николаева Е.А., Мамедов И.С. Дефицит коэнзима Q10 у детей: клинико-генетические варианты, диагностика и лечение. Рос вестн перинатол и педиат 2012; 2: 77—83. (Nikolaeva E.A., Mamedov I.S. Q10 deficiency in children: clinical and genetic variants, diagnosis and treatment. Ros vestn perinatol i pediat 2012; 2: 77—83.)

51. Menke Т., Niklowitz P., Schluter B. et al. Plasma levels and redox status of coenzyme Q10 in infants and children. Biofactors 2004; 20: 173-181.

52. Thiel R., Fowkes S.W. Can cognitive deterioration associated with Down syndrome be reduced? Med Hypotheses 2005; 64: 3: 524-532.

53. Soler Магнп A., Xandri Graupera J.M. Nutritional status of intellectual disabled persons with Down syndrome. Nutr Hosp 2011; 26: 5: 1059-1066.

54. Shichiri M., Yoshida Y, Ishida N. et al. 6-Tocopherol suppresses lipid peroxidation and behavioral and cognitive impairments in the Ts65Dn mouse model of Down syndrome. Free Radic Biol Med 2011; 50: 12: 1801-1811.

55. Lott I.T. Antioxidants in Down syndrome. Biochim Biophys Acta 2012; 1822: 5: 657-663.

56. Tiano L., Busciglio J. Mitochondrial dysfunction and Down's syndrome: is there a role for coenzyme Q10? Biofactors 2011; 37: 5: 386-392.

57. Tiano L., Padella L., Santoro L. et al. Prolonged coenzyme Q10 treatment in Down syndrome patients: effect on DNA oxidation. Neurobiol Aging 2012; 33: 3: 626.


Review

For citations:


Stavtseva S.N., Nikolaeva E.A., Sukhorukov V.S. Oxidative stress and mitochondrial dysfunction in the pathogenesis of Down's disease. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(3):39-43. (In Russ.)

Views: 872


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)