ArticleThe Journal of pathology2012
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle.
Article in The Journal of pathology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
- Transcriptomic profiling of skeletal muscle in the DMDScientific reports · 2025Article
- Platelet status in cancer cachexia progression in ApcFrontiers in immunology · 2023Article
- Article
- The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy.Journal of clinical medicine · 2019Review
- Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy.Sports (Basel, Switzerland) · 2019Article
- The Variant at TGFBRAP1 but Not TGFBR2 Is Associated with Antituberculosis Drug-Induced Liver Injury.Evidence-based complementary and alternative medicine : eCAM · 2019Article
- Outside in: The matrix as a modifier of muscular dystrophy.Biochimica et biophysica acta. Molecular cell research · 2017Review
- A Reduction in Selenoprotein S Amplifies the Inflammatory Profile of Fast-Twitch Skeletal Muscle in theMediators of inflammation · 2017Article
- Article
- Modifier genes and their effect on Duchenne muscular dystrophy.Current opinion in neurology · 2015Review
- Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.Journal of neuromuscular diseases · 2015Article
- Assessing the translational landscape of myogenic differentiation by ribosome profiling.Nucleic acids research · 2015Article
- Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.Annals of neurology · 2015Article
- Dystrophin induced cognitive impairment: mechanisms, models and therapeutic strategies.Annals of neurosciences · 2015Review
- Article
- Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage.Human molecular genetics · 2014Article
- Osteopontin, inflammation and myogenesis: influencing regeneration, fibrosis and size of skeletal muscle.Journal of cell communication and signaling · 2014Article
- Modifying muscular dystrophy through transforming growth factor-β.The FEBS journal · 2013Review
- Genetic Modifiers for Neuromuscular Diseases.Journal of neuromuscular diseasesArticle
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
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 transforming growth factor-β (TGFB) and TGFB receptor-2 (TGFBR2) mRNA in DMD muscle biopsies, given the ability of TGFB and TGFBR2 to activate SPP1 promoter region and their role in DMD pathogenesis. The amount of TGFB and TGFBR2 mRNA did not predict the amount of SPP1 mRNA or protein, while a polymorphism in the TGFBR2 gene (rs4522809) was found to be a strong predictor of SPP1 mRNA level. Our findings suggest that OPN mediates inflammatory changes in DMD and that TGFB signalling has a role in the complex regulation of osteopontin expression.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.