The commonly accepted definition of Fanconi anemia (FA) relying on DNA repair deficiency is submitted to a critical review starting from the early reports pointing to mitomycin C bioactivation and to the toxicity mechanisms of diepoxybutane and a group of nitrogen mustards causing DNA crosslinks in FA cells. A critical analysis of the literature prompts revisiting the FA phenotype and crosslinker sensitivity in terms of an oxidative stress (OS) background, redox-related anomalies of FA (FANC) proteins, and mitochondrial dysfunction. This re-appraisal of FA basic defect might lead to innovative approaches both in elucidating FA phenotypes and in clinical management

Fanconi anemia (FA) and crosslinker sensitivity: Re-appraising the origins of FA definition

D'ISCHIA, MARCO;
2015

Abstract

The commonly accepted definition of Fanconi anemia (FA) relying on DNA repair deficiency is submitted to a critical review starting from the early reports pointing to mitomycin C bioactivation and to the toxicity mechanisms of diepoxybutane and a group of nitrogen mustards causing DNA crosslinks in FA cells. A critical analysis of the literature prompts revisiting the FA phenotype and crosslinker sensitivity in terms of an oxidative stress (OS) background, redox-related anomalies of FA (FANC) proteins, and mitochondrial dysfunction. This re-appraisal of FA basic defect might lead to innovative approaches both in elucidating FA phenotypes and in clinical management
2015
Bioactivation; Crosslinkers; Diepoxybutane; FANC proteins; Fanconi anemia; Glutathione; Melphalan; Mitomycin c; Oxidative stress; Animals; DNA Damage; DNA Repair; Fanconi Anemia; Gene Expression Regulation; Humans; Oxidative Stress; Chromosomal Instability; Cross-Linking Reagents; Oncology; Pediatrics; Perinatology and Child Health; Hematology; Medicine (all)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11384/84122
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