DNA damage and repair capacity in patients with neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. NF1 is characterized particularly by café-au-lait spots and fibromatous tumors of the skin. In this study, the comet assay was used to evaluate levels of basal single strand breaks, H2O2 oxidation-induced DNA damage, and repair capacity in lymphocytes of NF1 patients compared to healthy control subjects. No significant differences in DNA damage were observed between controls and patients (p > 0.05), but DNA repair capacity was significantly slower in NF1 patients (p < 0.05). It suggests less efficient DNA repair capacity may be associated with NF1 disease. Using this assay we could identify individuals with poor repair capacity who would be good candidates for intensive follow-up and screening.

Keywords

• reparación del adn
• neurofibromatosis
• linfocitos de sangre periférica
• ensayo cometa
• daño oxidativo