Titolo: Bovine neuromuscular diseases as a model for translational researches

Bando: PRIN

Durata: 24 mesi

Coordinatore: PROF. ARCANGELO GENTILE

Budget BCA: € 77.245,00

Responsabile scientifico: prof.ssa Roberta Sacchetto

Research Team: Sacchetto Roberta

Abstract: The research group proposing (PRG) this project has been working for almost two decades in inherited neuromuscular diseases of cattle, having acquired significant experience, as revealed by the literature produced. The PRG has found the pathogenesis and the causative variants of ATP2A1-related Bovine Congenital Pseudomyotonia (PMT) and KCNG1-related congenital neuromuscular channelopathy; for other diseases, in particular Bovine Spastic Paresis (BSP) and Bovine Spastic Syndrome (BSS), the genetic basis is still obscure. Several neuromuscular diseases in cattle have a corresponding disease in human medicine (e.g. PMT = Human Brody disease; BSP and BSS Human Hereditary Spastic Paraplegia). This makes the bovine an outstanding model for translational medicine studies.