Sabrina Giacoppo, Thangavelu Soundara Rajan, Rocco Salvatore Calabrò, Placido Bramanti and Emanuela Mazzon
The present study was aimed to investigate the role of Wnt/β-catenin pathway in peripheral blood mononuclear cells (PBMCs) derived from patients with Facioscapulohumeral muscular dystrophy (FSHD). Our results showed severe impairment in β-catenin signaling pathway in the PBMCs of FSHD patients. We suppose the aberration of β-catenin expression in the PBMCs of FSHD patients may greatly reflect the severity of neuromuscular degeneration of FSHD pathology per se, which may occurred due to the loss of β-catenin and its prosurvival and regenerative roles against the inflammatory/oxidative/apoptotic cascades of FSHD pathology. These preliminary data from four consanguineous FSHD patients may offer, at least in partial, putative molecular cues underlying the pathophysiology of FSHD.
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