Article
SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.
Human molecular genetics - 1 Sept 2017
Vianello Sara, Pantic Boris, Fusto Aurora, Bello Luca, Galletta Eva, Borgia Doriana, Gavassini Bruno F, Semplicini Claudio, Sorarù Gianni, Vitiello Libero, Pegoraro Elena
Abstract excerpt
Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has been recognized as a genetic modifier of DMD, and there is evidence suggesting that it modifies response to glucocorticoid treatment. The effect of the glucocorticoid...
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