A Global MicroRNA Profile in Fanconi Anemia: A Pilot Study

Paolo Degan, Enrico Cappelli, Maria Grazia Longobardi, Alessandra Pulliero, Paola Cuccarolo, Carlo Dufour, Silvia Ravera, Daniela Calzia, Alberto Izzotti

Research output: Contribution to journalArticlepeer-review


Purpose: Fanconi anemia (FA) is a complex tumor-prone disease defined by an entangled genotype and phenotype. Despite enormous efforts in the last 20 years, a comprehensive and integrated view of the disease is still missing. The aim of this pilot study was to establish whether a global microRNA (miRNA) analysis approach could be helpful in defining aspects in FA phenotype, which might deserve future attention with the perspective to develop miRNA-based therapies. Methods: miRNA array were employed to characterize the global miRNA (miRNoma) profile of FA RNA samples with respect to normal samples. Results: We report and compare miRNA profile from two FA established cell lines and three FA patients. This analysis reveals that 36 and 64 miRNAs, respectively, are found differentially expressed (>2-fold variation and P < 0.05) in the samples from FA cell lines and FA patients. Overlap of these data results in 24 miRNAs as shared in the two sample populations. Available bioinformatics methods were used to predict target genes for the differentially expressed miRNAs and to perform pathway enrichment analysis. Conclusions: Seven pathway results associated with the FA phenotype. It is interesting to note that some of these pathways were previously unrelated to FA phenotype. It might be important to focus on these pathways not previously emerged as dysfunctional in FA to better define the pathophysiological context of this disease. This is the first report of a global miRNA analysis in FA.

Original languageEnglish
Pages (from-to)53-59
Number of pages7
JournalMetabolic Syndrome and Related Disorders
Issue number1
Publication statusPublished - Feb 1 2019


  • cancer-prone diseases
  • data mining
  • Fanconi anemia
  • KEGG pathways
  • metabolic relationships
  • microRNA

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism


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