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Abstract
Fanconi anaemia (FA) is a rare genetic chromosomal instability syndrome caused by impairment of DNA repair and reactive oxygen species (ROS) imbalance. This disease is also related to bone marrow failure and cancer. Treatment of these complications with radiation and alkylating agents may enhance chromosomal breakage. We have evaluated the effect of amifostine (AMF) on basal and mitomycin C (MMC)-induced chromosomal breakage in FA blood cells using the micronucleus assay. The basal micronuclei count was higher among FA patients than healthy subjects. Pre-treatment with AMF significantly inhibited micronucleation induced by MMC in healthy subjects (23.4 ± 4.0 – MMC vs 12.3 ± 2.9 – AMF → MMC) MN/1000CB, p < 0.01, one way ANOVA) as well as in FA patients (80.0 ± 5.8 – MMC vs 40.1 ± 5.8 – AMF → MMC) MN/1000CB, p < 0.01, ANOVA). Release of ROS by peripheral blood mononuclear cells treated with AMF → MMC and measured by chemoluminometry showed that AMF-protection was statistically higher among FA patients than in healthy individuals. Based on these results we suggest that AMF prevents chromosomal breakage induced by MMC, probably by its antioxidant effect.
Highlights
Fanconi anaemia (FA) is a rare recessive inherited syndrome characterised by chromosomal instability, cellular hypersensitivity to DNA cross linking agents, progressive pancytopenia, congenital malformations and increased predisposition to cancers [1]
Joenje et al found that chromosomal breakage in FA cells augmented with increasing oxygen tension, it was proposed that the primary defect results from a failure to tolerate oxidative stress [10]
We examined blood from 7 FA patients and 6 healthy volunteers, grouped in 5 for each assay (Table 1)
Summary
Fanconi anaemia (FA) is a rare recessive inherited syndrome characterised by chromosomal instability, cellular hypersensitivity to DNA cross linking agents, progressive pancytopenia, congenital malformations and increased predisposition to cancers [1]. Based on these results we suggest that AMF prevents chromosomal breakage induced by MMC, probably by its antioxidant effect. The aim of this study was to evaluate the cytoprotective effect of AMF on spontaneous or MMCinduced chromosomal damage in peripheral lymphocytes from FA patients.
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