John Libbey Eurotext




Chromosome aberrations in Raynaud’s phenomenon
European Journal of Dermatology. Volume 14, Number 5, 327-31, September-October 2004, Investigative report
Free Article
Author(s) : Giovanni PORCIELLO, Roberto SCARPATO, Franca STORINO, Lucia MIGLIORE, Clodoveo FERRI, Francesca CAGETTI, Gabriella MOROZZI, Francesca BELLISAI, Roberto MARCOLONGO, Mauro GALEAZZI
Summary : We evaluated the occurrence of spontaneous chromosome damage in cultured peripheral lymphocytes of subjects with idiopathic and pre-scleroderma Raynaud’s phenomenon, by means of molecular cytogenetic analysis. Using the micronucleus assay as a marker of chromosome alteration, we studied 30 patients with pre-scleroderma Raynaud’s phenomenon, 30 patients with idiopathic Raynaud’s phenomenon and 30 healthy subjects. All subjects were classified as ANA-, ACA+ or Scl 70+. To identify the mechanism of micronucleus formation, fluorescence in situ hybridisation analysis was also performed. Pre-scleroderma Raynaud’s phenomenon subjects showed significantly higher micronucleus frequencies than idiopathic Raynaud’s phenomenon subjects and controls (37.0 ± 11.5 vs. 11.1 ± 3.2 and 10.7 ± 2.7 respectively p <\; 0.0001). Interestingly, subjects with idiopathic Raynaud’s phenomenon displayed micronucleus frequency comparable to that of healthy controls. Furthermore, ACA+ subjects showed the highest micronucleus frequencies (41.0 ± 7.6) as compared to subjects with Scl 70+ antibody (25.0 ± 3.5). Our results show that circulating lymphocytes of only pre-scleroderma Raynaud’s phenomenon subjects undergo chromosomal damage, as detected by the micronucleus assay, at a higher rate than expected. No prevalence of aneuploidogenic or clastogenic events in micronucleus formation is revealed by fluorescence in situ hybridisation analysis.
Keywords : systemic sclerosis, Raynaud’s phenomenon, chromosomal breakage, micronucleus assay

Chromosome aberrations in Raynaud’s phenomenon