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2014, Number 2

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Rev Cubana Pediatr 2014; 86 (2)

Phenotype of the nucleotide excision repair in Cuban sunhypersensitive patients

Pupo BJB, Gutiérrez GR, Lantigua CA, Suárez PNL, Acosta ST, Pandolfi BA, de Armas SA

Language: Spanish
References: 29
Page: 134-146
PDF size: 189.08 Kb.


ABSTRACT

Introduction: deficiencies in the deoxyribonucleic acid repair mechanisms are a risk factor for cancer as is the case of xeroderma pigmentosum.
Objectives: to evaluate the phenotype of nucleotide excision repair in Cuban sun hypersensitive patients with clinical suspicion of xeroderma pigmentosum at erythematopigmentary phase, by using the Comet assay alkaline variant.
Methods: twenty eight patients mainly at pediatric ages were studied. The used DNA damage inducer was ultraviolet radiation C (254 nm) at 40 J/m2 dose. The DNA damage was quantified immediately after cell irradiation (0 minutes) and some time afterwards, then cultured at 37 ºC and enriched with 10 % fetal serum (45 minutes). This data allowed determining the percentage of difference in arbitrary units (AU) between both moments.
Results: there was no significant differences (p= 0.080976) between the group of patients (224.23 AU) and the control group (195.43 UA). The UV-C induced DNA damage was recognized and excised in the patients with similar effectiveness to that of the controls.
Conclusions: the UV-C radiation-coupled alkaline comet assay allowed clearly and indirectly identifying the functioning of the nucleotide excision repair mechanisms in which XPA to XPG proteins influence. The studied subjects did not show the classical form of this disease.


REFERENCES

  1. Neher TM, Turchi JJ. Current Advances in DNA Repair: Regulation of Enzymes and Pathways Involve in Maintaining Genomic Stability. Antioxidants & Redox Signaling. 2011;14(12):2461-4.

  2. Coppedè F, Migliore L. DNA Repair in Premature Aging Disorders and Neurodegeneration. Current Aging Science. 2010;3:3-19.

  3. D'Orazio J, Jarrett S, Amaro-Ortiz A, Scott T. UV Radiation and the Skin. Int J Mol Sci. 2013 Jun 7;14(6):12222-48.

  4. Budden T, Bowden NA. The Role of Altered Nucleotide Excision Repair and UVBInduced DNA Damage in Melanomagenesis. Int J Mol Sci. 2013;14(1):1132-51.

  5. Meeting report. Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: Molecules to patients. Mechanisms of Ageing and Development. 2011;132:340-7.

  6. Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet Journal of Rare Diseases. 2011;6(70):1750-117.

  7. Kraemer KH, Sander M, Bohr VA. Meeting report. New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging. Mechanisms of Ageing and Development. 2007;128:229-35.

  8. Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, et al. Xeroderma pigmentosum-variant patients from America, Europe, and Asia. J Invest Dermatol. 2008 Aug;128(8):2055-68.

  9. Chou K. DNA Polymerase Eta and Chemotherapeutic Agents. Antioxidants & Redox Signaling. 2011;14(12):2521-9.

  10. Singh NP, McCoy MT, Tice RR, Schneider EL. A simple technique for quantitation of low levels of DNA damage in individual cells. Exp Cell Res. 1988;175:184-91.

  11. Rojas E, Lopez MC, Valverde M. Single cell gel electrophoresis assay: methodology and applications. Journal of Chromatography B. 1999;722:225-54.

  12. Collins AR. The Comet Assay for DNA Damage and Repair. Principles, Applications, and Limitations. Molecular Biotechnology. 2004;26:249-61.

  13. Nadin SB, Vargas-Roig LM, Drago G, Ibarra J, Ciocca, DR. DNA damage and repair in peripheral blood lymphocytes from healthy individuals and cancer patients: a pilot study on the implications in the clinical response to chemotherapy. Cancer Letters. 2006;239:84-97.

  14. Alapetite C, Benoit A, Moustacchi E, Sarasin A. The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy. J Invest Dermatol. 1997;108:154-9.

  15. Green MH, Lowe JE, Harcourt SA, Akinluyi P, Rowe T, Cole J, et al. UV-C sensitivity of unstimulated and stimulated human lymphocytes from normal and xeroderma pigmentosum donors in the comet assay: a potential diagnostic technique. Mutat Res. 1992;273:137-44.

  16. Collins AR, Ma AG, Duthie SJ. The kinetics of repair of oxidative DNA damage (strand breaks and oxidised pyrimidine) in human cells. Mutat Res. 1995;336:69-77.

  17. Roblejo H, Cuétara E, Acosta T, Lantigua A, Gutiérrez R, Pupo J, et al. Descripción clínica y capacidad de reparación del ADN por escisión de nucleótidos en pacientes cubanos con Xeroderma Pigmentoso. Rev Cubana Genet Comunit. 2009;3(1):35-41.

  18. Trzeciak AR, Barnes J, Ejiogu N, Foster K, Brant LJ, Zonderman AB, et al. Age, sex, and race influence single-strand break repair capacity in a human population. Free Radic Biol Med. 2008 December 15;45(12):1631-41.

  19. Loock KV, Decordier I, Ciardelli R, Dominique H, Kirsch-Volders M. An aphidicolinblock nucleotide excision repair assay measuring DNA incision and repair capacity. Mutagenesis. 2010;25(1):25-32.

  20. Cipollini M, He J, Rossi P, Baronti F, Micheli A, Barale R. Can individual repair kinetics of UVC-induced DNA damage in human lymphocytes be assessed through the comet assay? Mutation Research. 2006;601:150-61.

  21. Soehnge H, Ouhtit A, Ananthaswamy ON. Mechanisms of induction of skin cancer by uv radiation. Frontiers in Bioscience. 1997;2:538-51.

  22. D'Errico M, Lemma T, Calcagnile A, De Santis LP, Dogliotti E. Cell type and DNA damage specific response of human skin cells to environmental agents. Mutation Research. 2007;614:37-47.

  23. Ikehata H, Oo T. The Mechanisms of UV Mutagenesis. J Radiat Res. 2011;52:115-25.

  24. Fousteri M, Mullenders L. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Cell Research. 2008;18:73-84.

  25. Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nature Reviews Cancer. 2005 July;5:564-73.

  26. Zheng W, He JL, Jin LF, Lou JL, Wang BH. Assessment of human DNA repair (NER) capacity with DNA repair rate (DRR) by comet assay. Biomed Environ Sci. 2005 Apr;18(2):117-23.

  27. Fassihi H. Spotlight on xeroderma pigmentosum. Photochem Photobiol Sci. 2013;12:78-84.

  28. Tanioka M, Masaki T, Ono R, Nagano T, Otoshi-Honda E, Matsumura Y, et al. Molecular Analysis of DNA Polymerase Eta Gene in Japanese Patients Diagnosed as Xeroderma Pigmentosum Variant Type. Journal of Investigative Dermatology. 2007;127:1745-51.

  29. Moriwaki S. Hereditary Disorders with Defective Repair of UV-Induced DNA Damage. Jpn Clin Med. 2013;4:29-35.




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