Preferences help
enabled [disable] Abstract
Number of results
2013 | 8 | 6 | 762-765
Article title

Poly (ADP-ribose) polymerase 1 expression in fibroblasts of Down syndrome subjects

Title variants
Languages of publication
Down syndrome (DS) is the most common chromosomal disorder. It is featured by intellectual disability and is caused by trisomy 21. People with DS can develop some traits of Alzheimer disease at an earlier age than subjects without trisomy 21. Apoptosis is a programmed cell death process under both normal physiological and pathological conditions. Poly (ADP-ribose) polymerase 1 is a mediator of programmed-necrotic cell death and appears to be also involved in the apoptosis. The aim of the present work was to detect the intracellular distribution of PARP-1 protein using immunofluorescence techniques and the expression of PARP-1 mRNA in culture of fibroblasts of DS subjects. The analysis of the intracellular distribution of PARP-1 show a signal at the nuclear level in about 75 % of the cells of DS subjects with a slight uniformly fluorescent cytoplasm. In contrast, in about 65% of the analyzed fibroblasts of the normal subjects only a slight fluorescent was found. These observations have been confirmed by PARP-1 gene mRNA expression evaluation. The data obtained from this study strengthen the hypothesis that the over-expression of PARP-1 gene could have a role in the activation of the apoptotic pathways acting in the neurodegenerative processes in DS.
Physical description
1 - 12 - 2013
6 - 12 - 2013
  • [1] Capone GT. Down syndrome: advances in molecular biology and the neurosciences. J Dev Behav Pediatr 2001;22:40–59[Crossref]
  • [2] Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J. Trisomy recurrence: A reconsideration based on North American data. Am J Hum Genet 2004;75:95–100
  • [3] Newberger DS. Down Syndrome: Prenatal risk assessment and diagnosis. Am Fam Physician 2000;62:825–832
  • [4] Wisniewski KE, Dalton AJ, McLachlan C, Wen GY, Wisniewski HM. Alzheimer’s disease in Down’s syndrome: clinicopathologic studies. Neurology 1985;35:957–961[Crossref]
  • [5] Elmore S. Apoptosis: a review of programmed cell death. Toxicol Pathol 2007;35:495–516[WoS][Crossref]
  • [6] Hassa PO, Hottiger MO. The diverse biological roles of mammalian PARPs, a small but powerful family of poly-ADP-ribose polymerases. Front Biosci 2008;13:3046–3082[Crossref][WoS]
  • [7] Yu SW, Wang H, Poitras MF, Coombs C, Bowers WJ, Federoff HJ. Mediation of poly(ADP-ribose) polymerase-1-dependent cell death by apoptosis-inducing factor. Science 2002;297:259–263
  • [8] Andrabi SA, Kim NS, Yu SW. Poly(ADP-ribose) (PAR) polymer is a death signal. Proc Natl Acad Sci USA 2006;103:18308–183013[Crossref]
  • [9] Yu SW, Andrabi SA, Wang H. Apoptosis-inducing factor mediates poly (ADP-ribose) (PAR) polymer-induced cell death. Proc Natl Acad Sci USA 2006;103:18314–18319[Crossref]
  • [10] Li CM, Guo M, Salas M, Schupf N, Silverman W, Zigman WB, Husain S, Warburton D, Thaker H, Tycko B. Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21. BMC Med Genet 2006;7:24[Crossref]
  • [11] Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)). Method 2001;4:402–408[Crossref]
  • [12] Eustermann S, Videler H, Yang JC, Cole PT, Gruszka D, Veprintsev D, Neuhaus D. The DNA-binding domain of human PARP-1 interacts with DNA single-strand breaks as a monomer through its second zinc finger. J Mol Biol 2011;407:149–170[Crossref]
  • [13] Kannan S, Fang W, Song G, Mullighan CG, Hammitt R, McMurray J. Notch/HES1-mediated PARP1 activation: a cell-type specific mechanism for tumor suppression. Blood 2011;117:2891–2900[Crossref]
  • [14] Sahaboglu A, Tanimoto N, Kaur J, Sancho-Pelluz J, Huber G, Fahl E. PARP1 gene knock-out increases resistance to retinal degeneration without affecting retinal function. PLoS One 2010;11:e15495[WoS][Crossref]
  • [15] Hassa PO, Haenni SS, Elser M, Hottiger MO. Nuclear ADP-ribosylation reactions in mammalian cells: where are we today and where are we going? Microbiol Mol Biol Rev 2006;70:789–829[Crossref]
  • [16] Barone C, Romano C, Ridolfo F, Gulotta E, Scavuzzo C, Salluzzo MG, Giambirtone MC, Caraci F, Romano C, Bosco P. Differential expression of PARP1 mRNA in leucocytes of patients with Down syndrome. J Genet 2011;90:469–472[Crossref]
  • [17] Jagtap P, Szabo C. Poly (ADP-ribose) polymerase and the therapeutic effects of its inhibitors. Nat Rev Drug Discov 2005;4:421–440[Crossref]
  • [18] Schreiber V, Dantzer F, Ame JC, de Murcia G. Poly(ADP-ribose): novel functions for an old molecule. Nat Rev Mol Cell Biol 2006;7:517–528[Crossref]
Document Type
Publication order reference
YADDA identifier
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.