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E. M. Shore, M. Xu, G. J. Feldman, D. A. Fenstermacher, T. J. Cho, I. H. Choi, J. M. Connor, P. Delai, D. L. Glaser, M. LeMerrer, R. Morhart, J. G. Rogers, S. Roger, J. T. Triffitt, J. A. Urtizberea, M. Zasloff, M. A. Brown and F. S. Kaplan, “A Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic Fibrodysplasia Ossificans Progressiva,” Nature Genetics, Vol. 38, 2006, pp. 525-527. doi:10.1038/ng1783

has been cited by the following article:

• TITLE: Effects of Serum from a Fibrodysplasia Ossificans Progressiva Patient on Osteoblastic Cells

  AUTHORS: Itoko Hisa, Akira Kawara, Takenobu Katagiri, Toshitsugu Sugimoto, Hiroshi Kaji

  KEYWORDS: Fibrodysplasia Ossificans Progressiva; Osteoblast; Bone Morphogenetic Protein

  JOURNAL NAME: Open Journal of Endocrine and Metabolic Diseases, Vol.2 No.1, February 27, 2012

  ABSTRACT: Introduction: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. Patients and Methods: In the present study, we present a case of FOP with marked progressive ossification of extraskeletal tissues. We investigated whether soluble factors in serum would affect the osteoblast phenotype by examining the effects of serum from this patient and control subjects on mouse osteoblastic MC3T3-E1 cells. Results: The clinical findings of this patient were compatible with FOP, and direct sequence analysis of genomic DNA demonstrated the presence of a heterozygous 617G> A (R206H) mutation of activin type 1 receptor (ACVR1). Serum from the FOP patient enhanced the level of alkaline phosphatase (ALP) in Western blotting, compared with serum from the control, in MC3T3-E1 cells. Moreover, serum from the FOP patient enhanced the levels of ALP, osteocalcin and bone morphogenetic protein-2 mRNA in these cells. Conclusion: We presented a case of FOP with progressive ossification in extra-skeletal tissues with ACVR1 mutation. The present data suggest that the serum from this patient includes some soluble factors, which might enhance the osteoblast differentiation and BMP-2 expression in mouse osteoblastic cells.