INFORMAZIONI SU
PAVAN Eleonora
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Supervisori: Dott.ssa Dardis e Prof. Brancolini Generation and characterization of GBA knockout cell lines using editing technologies to explore the possible role of miRNAs as biomarkers of bone involvement in Gaucher Disease |
| Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA gene, resulting in the deficient activity of acid β-glucosidase. Up to 90% of GD patients report bone symptoms. Even though the molecular basis of bone involvement in GD is unclear, the role of osteoblasts and osteoclasts, and the possible role of miRNAs in the bone pathogenic process have been demonstrated,whereas no information on cartilage cells has been reported. For these reasons, we developed GD models of osteoclasts, osteoblasts, and chondrocytes exploiting CRISPR/Cas technology on continuous cell lines, and we noticed that the functioning of all these cell types was impaired in GD miming conditions. Moreover, we studied the miRNA profile of our osteoblast model, identifying a promising candidate to be further investigated. As this miRNA displayed a role as a regulator of the expression of bone-related genes, we suggest it as a possible player in the bone pathogenesis of GD. |
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