6533b85dfe1ef96bd12bdbd0
RESEARCH PRODUCT
Fanconi anemia (FA) and crosslinker sensitivity: Re-appraising the origins of FA definition
Federico PallardóGiovanni PaganoMarco D'ischiasubject
Geneticsbusiness.industryDNA repairDNA damageMitomycin CDiepoxybutaneHematologymedicine.diseasemedicine.disease_causeFANC proteinschemistry.chemical_compoundOncologychemistryFanconi anemiaChromosome instabilityPediatrics Perinatology and Child HealthmedicineCancer researchbusinessOxidative stressdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-03-02 | Pediatric Blood & Cancer |