TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle.

ABSTRACT: 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. We did not find significant differences in osteopontin mRNA or protein expression between patients carrying the T (ancestral allele) or TG/GG genotypes at rs28357094. The G allele was significantly associated with reduced CD4(+) and CD68(+) cells on patient muscle biopsy. We also quantified transfor

SUBMITTER: Piva L 

PROVIDER: S-EPMC4121062 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature