A bioinformatics-guided analytical approach for drug repositioning: Colchicine as a candidate for gaucher disease...

Gaucher disease is a rare lysosomal storage disorder characterized by lipid accumulation. Emerging evidence suggests that patients with gaucher disease are at an increased risk of developing melanoma, yet the shared molecular mechanisms remain unclear. This study aimed to investigate and validate potential biomarkers commonly expressed in gaucher disease and melanoma through an integrated approach combining bioinformatics, in silico, and in vitro analyses. Gene expression profiles of gaucher disease and melanoma were downloaded from the Gene Expression Omnibus (GEO). Webgestalt was used to identify key pathways and genes. Enriched pathways and genes were detected using the Enrichr platform for commonly expressed genes. Cytoscape software identified 14 hub genes, from which one key gene was selected using a validation dataset from GEO. SwissADME was used to predict 8 drug candidates. Docking analysis was performed to validate the binding capacity of protein and drug candidates. Among them, colchicine exhibited lipid accumulation-inhibiting effects in a gaucher cell model, suggesting it as a potential therapeutic candidate.