2014, Número 2
<< Anterior Siguiente >>
Biotecnol Apl 2014; 31 (2)
ADN dañado y capacidad de reparación en pacientes con neurofibromatosis tipo 1
Gutiérrez R, Pupo J, Riverón G, González AM, Pandolfi A, de Armas A, Cásido M, Rojas I
Idioma: Ingles.
Referencias bibliográficas: 41
Paginas: 136-140
Archivo PDF: 205.05 Kb.
RESUMEN
La neurofibromatosis tipo 1 (NF1) es una enfermedad autosómica dominante que muestra una gran variabilidad inter e intrafamiliar en la expresión fenotípica. Se caracteriza sobre todo por manchas de color café con leche y tumores fibromatosos de la piel. En este estudio, se utilizó el ensayo de cometa para evaluar los niveles basales de roturas de simple cadena, la oxidación inducida por H
2O
2 en el ADN, y la capacidad de reparación en los linfocitos de los pacientes con NF1 en comparación con sujetos sanos. No se observaron diferencias significativas en el daño de ADN entre los controles y los pacientes (p › 0.05), pero la capacidad de reparación del ADN fue significativamente más lenta en los pacientes con NF1 (p ‹ 0.05). Esto sugiere que la capacidad de reparación del ADN menos eficiente puede estar asociada con el desarrollo y evolución de la enfermedad. Con la utilización de este ensayo podríamos identificar a los individuos con la capacidad de reparación disminuida, los cuales serían buenos candidatos para un seguimiento intensivo.
REFERENCIAS (EN ESTE ARTÍCULO)
Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet. 1999; 89(1):1-6.
Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990;62(1):193-201.
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990;249(4965): 181-6.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81-8.
Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich RE, Kluwe L, et al. Germline and somatic NF1 gene mutations in plexiform neurofibromas. Hum Mutat. 2008;29(8):E103-11.
Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993;53(2):305-13.
Szudek J, Joe H, Friedman JM. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Genet Epidemiol. 2002;23(2):150-64.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, et al. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet. 2009;18(15):2768-78.
Jackson SP, Bartek J. The DNA-damage response in human biology and disease. Nature. 2009;461(7267):1071-8.
Altieri F, Grillo C, Maceroni M, Chichiarelli S. DNA damage and repair: from molecular mechanisms to health implications. Antioxid Redox Signal. 2008;10(5):891-937.
Hazra TK, Das A, Das S, Choudhury S, Kow YW, Roy R. Oxidative DNA damage repair in mammalian cells: a new perspective. DNA Repair (Amst). 2007;6(4): 470-80.
Cooke MS, Evans MD, Dizdaroglu M, Lunec J. Oxidative DNA damage: mechanisms, mutation, and disease. FASEB J. 2003;17(10):1195-214.
Paz-Elizur T, Krupsky M, Elinger D, Schechtman E, Livneh Z. Repair of the oxidative DNA damage 8-oxoguanine as a biomarker for lung cancer risk. Cancer Biomark. 2005;1(2-3):201-5.
Paz-Elizur T, Elinger D, Leitner-Dagan Y, Blumenstein S, Krupsky M, Berrebi A, et al. Development of an enzymatic DNA repair assay for molecular epidemiology studies: distribution of OGG activity in healthy individuals. DNA Repair (Amst). 2007;6(1):45-60.
Tice RR, Agurell E, Anderson D, Burlinson B, Hartmann A, Kobayashi H, et al. Single cell gel/comet assay: guidelines for in vitro and in vivo genetic toxicology testing. Environ Mol Mutagen. 2000;35(3): 206-21.
Schwenn MR, Weichselbaum RR, Little JB. Investigation of the cytotoxic effects of DNA damaging agents on neurofibromatosis cells. Mutat Res. 1985;142(1-2):55-8.
Troilo P, Strong LC, Little JB, Nichols WW. Spontaneous and induced levels of chromosomal aberration and sister-chromatid exchange in neurofibromatosis: no evidence of chromosomal hypersensitivity. Mutat Res. 1992;283(4):237-42.
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(1):184-91.
Nadin SB, Vargas-Roig LM, Ciocca DR. A silver staining method for single-cell gel assay. J Histochem Cytochem. 2001; 49(9):1183-6.
Collins AR. Measuring oxidative damage to DNA and its repair with the comet assay. Biochim Biophys Acta. 2014; 1840(2):794-800.
Collins AR, Gaivao I. DNA base excision repair as a biomarker in molecular epidemiology studies. Mol Aspects Med. 2007;28(3-4):307-22.
WMA Declaration of Helsinki - Ethical Principles for Medical Research Involving Human Subjects [Internet]. Ferney-Voltaire: World Medical Association, Inc.; 2013 [cited 2013 Oct 17]. Available from: http:// www.wma.net/en/30publications/10policies/ b3/
Smith CC, O’Donovan MR, Martin EA. hOGG1 recognizes oxidative damage using the comet assay with greater specificity than FPG or ENDOIII. Mutagenesis. 2006;21(3):185-90.
Forchhammer L, Brauner EV, Folkmann JK, Danielsen PH, Nielsen C, Jensen A, et al. Variation in assessment of oxidatively damaged DNA in mononuclear blood cells by the comet assay with visual scoring. Mutagenesis. 2008;23(3):223-31.
Orlow I, Park BJ, Mujumdar U, Patel H, Siu-Lau P, Clas BA, et al. DNA damage and repair capacity in patients with lung cancer: prediction of multiple primary tumors. J Clin Oncol. 2008;26(21):3560-6.
Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. Hum Mutat. 2003;22(6):423-7.
Wang Q, Montmain G, Ruano E, Upadhyaya M, Dudley S, Liskay RM, et al. Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. Human genetics. 2003;112(2):117-23.
Alotaibi H, Ricciardone MD, Ozturk M. Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. Mutat Res. 2008;637(1-2):209-14.
Berwick M, Vineis P. Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review. J Natl Cancer Inst. 2000;92(11):874-97.
Kruger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, et al. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet. 2008;16(1):62-72.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, et al. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet. 2009;18(15):2768-78.
Gutmann DH, Winkeler E, Kabbarah O, Hedrick N, Dudley S, Goodfellow PJ, et al. Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice. Oncogene. 2003;22(29):4581-5.
Paunu N, Syrjakoski K, Sankila R, Simola KO, Helen P, Niemela M, et al. Analysis of p53 tumor suppressor gene in families with multiple glioma patients. J Neurooncol. 2001;55(3):159-65.
Elmariah SB, Huse J, Mason B, Leroux P, Lustig RA. Multicentric glioblastoma multiforme in a patient with BRCA-1 invasive breast cancer. Breast J. 2006;12(5):470-4.
Kruger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, et al. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet. 2008;16(1):62-72.
El-Zein R, Bondy ML, Wang LE, de Andrade M, Sigurdson AJ, Bruner JM, et al. Increased chromosomal instability in peripheral lymphocytes and risk of human gliomas. Carcinogenesis. 1999;20(5):811-5.
Rosado MM, Bennici E, Novelli F, Pioli C. Beyond DNA repair, the immunological role of PARP-1 and its siblings. Immunology. 2013;139(4):428-37.
El-Zein RA, Monroy CM, Cortes A, Spitz MR, Greisinger A, Etzel CJ. Rapid method for determination of DNA repair capacity in human peripheral blood lymphocytes amongst smokers. BMC Cancer. 2010;10:439.
Parshad R, Sanford KK. Radiation-induced chromatid breaks and deficient DNA repair in cancer predisposition. Crit Rev Oncol Hematol. 2001;37(2):87-96.
Surowy H, Rinckleb A, Luedeke M, Stuber M, Wecker A, Varga D, et al. Heritability of baseline and induced micronucleus frequencies. Mutagenesis. 2011;26(1):111-7.
Lin J, Swan GE, Shields PG, Benowitz NL, Gu J, Amos CI, et al. Mutagen sensitivity and genetic variants in nucleotide excision repair pathway: genotype-phenotype correlation. Cancer Epidemiol Biomarkers Prev. 2007;16(10):2065-71.