Ontology highlight
ABSTRACT:
SUBMITTER: Piva L
PROVIDER: S-EPMC4121062 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Piva Luisa L Gavassini Bruno F BF Bello Luca L Fanin Marina M Soraru Gianni G Barp Andrea A Ermani Mario M Angelini Corrado C Hoffman Eric P EP Pegoraro Elena E
The Journal of pathology 20120828 2
A polymorphism (rs28357094) in the promoter region of the SPP1 gene coding for osteopontin (OPN) is a strong determinant of disease severity in Duchenne muscular dystrophy (DMD). The rare G allele of rs28357094 alters gene promoter function and reduces mRNA expression in transfected HeLa cells. To dissect the molecular mechanisms of increased disease severity associated with the G allele, we characterized SPP1 mRNA and protein in DMD muscle biopsies of patients with defined rs28357094 genotype. ...[more]