分子遺伝医学

Role of Wnt/Β-Catenin Signaling in Regulating the Balance between Oxidative Stress and Apoptosis in Peripheral Blood Mononuclear Cells from Patients with Facioscapulohumeral Muscular Dystrophy.

Abstract

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.