Resistance to apoptosis in Fanconi's anaemia

Daniela Monti, Sabrina Macchioni, Marcello Guido, Giovanni Pagano, Adriana Zatterale, Rita Calzone, Andrea Cossarizza, Elisabetta Straface, Walter Malorni, Claudio Franceschi

Research output: Contribution to journalArticlepeer-review


Franconi's anaemia (FA) is a rare autosomal recessive disease characterised by progressive pancytopoenia, a diverse assortment of congenital malformations, an increased sensitivity to reactive oxygen species and a predisposition to the development of malignancies. In the present study, we assessed the propensity to undergo apoptosis of peripheral blood mononuclear cells (PBMC) from Italian FA patients. Cells were challenged by 2-deoxy-(D)-ribose (dRib) or TNF-α plus cycloheximide as agents that induce apoptosis by interfering with cell redox status and mitochondrial membrane potential (MMP), and PBMC from FA patients resulted to be less prone to die than those from healthy subjects. The decreased susceptibility of FA cells to undergo apoptosis was also evident when another parameter highly correlated with the apoptotic process, i.e, MMP, was measured. Moreover, when N-acetylcysteine was added to dRib-treated PBMC, a strong protection was evident either in PBMC from control subjects or from FA patients. These data indicate that an alteration of unknown nature of the mechanisms favouring apoptosis is present in freshly collected cells from FA patients, and that such alteration could contribute to the pathogenesis of the disease, and particularly to the increased susceptibility to cancer.

Original languageEnglish
Pages (from-to)365-369
Number of pages5
JournalFEBS Letters
Issue number3
Publication statusPublished - Jun 16 1997


  • Apoptosis
  • Deoxy-(D)-ribose, 2-
  • Fanconi's anaemia
  • Mitochondria
  • Tumour necrosis factor-α

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology


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