Silvana Pileggi, Elisa A Colombo, Silvia Ancona, Roberto Quadri, Clara Bernardelli, Patrizia Colapietro, Michela Taiana, Laura Fontana, Monica Miozzo, Elena Lesma, Silvia M Sirchia
Beckwith-Wiedemann Syndrome (BWS) is an imprinting disorder characterized by overgrowth, stemming from various genetic and epigenetic changes. This study delves into the role of IGF2 upregulation in BWS, focusing on insulin-like growth factor pathways, which are poorly known in this syndrome. We examined the IGF2R, the primary receptor of IGF2, WNT, and autophagy/lysosomal pathways in BWS patient-derived lymphoblastoid cell lines, showing different genetic and epigenetic defects. The findings reveal a decreased expression and mislocalization of IGF2R protein, suggesting receptor dysfunction...
March 22, 2024: International Journal of Molecular Sciences