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

Author(s): Toshitsugu Sugimoto | Hiroshi Kaji | Takenobu Katagiri | Itoko Hisa | Akira Kawara

Journal: Journal of Biophysical Chemistry
ISSN 2153-036X

Volume: 02;
Issue: 01;
Start page: 1;
Date: 2012;
Original page

Keywords: Fibrodysplasia Ossificans Progressiva | Osteoblast | Bone Morphogenetic Protein

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.
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