A Global MicroRNA Profile in Fanconi Anemia: A Pilot Study
| Autor: | Paolo Degan, Paola Cuccarolo, Enrico Cappelli, Alberto Izzotti, Carlo Dufour, Daniela Calzia, Silvia Ravera, Alessandra Pulliero, Maria Grazia Longobardi |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
Oncology medicine.medical_specialty Genotype Endocrinology Diabetes and Metabolism KEGG pathways Fanconi anemia cancer-prone diseases data mining metabolic relationships microRNA Pilot Projects 030209 endocrinology & metabolism Disease 030204 cardiovascular system & hematology Cell Line 03 medical and health sciences 0302 clinical medicine Genotype-phenotype distinction hemic and lymphatic diseases Internal medicine Internal Medicine medicine Humans Child business.industry Gene Expression Profiling MicroRNA Profile Microarray Analysis medicine.disease MicroRNAs Phenotype Case-Control Studies Female Transcriptome business |
| Zdroj: | Metabolic Syndrome and Related Disorders. 17:53-59 |
| ISSN: | 1557-8518 1540-4196 |
| DOI: | 10.1089/met.2018.0085 |
| Popis: | 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.miRNA array were employed to characterize the global miRNA (miRNoma) profile of FA RNA samples with respect to normal samples.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.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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|