Responses to formaldehyde-induced DNA damage in human cells with DNA repair deficiencies

Abstract

Genetic defects in nucleotide excision repair (NER) result in syndromes whose patients have a high frequency of cancer and/or symptoms related to premature aging and neurodegeneration. In the case of mutations in the ERCC2/XPD gene, for example, mutations can lead to different pathologies, such as Xeroderma Pigmentosum (XP), Cockayne syndrome (CS) and Trichothiodystrophy (TTD), in which the latter two have clinical symptoms related to neurological problems. In this research plan, we intend to carry out experiments that test cells mutated in this gene, but from patients with different symptoms. The proposal is to test these cells for their responses to formaldehyde, which generates adducts in the DNA. The sensitivity and effects on cell cycle of cells treated with this compound will be studied. (AU)