Effects of Serum from a Fibrodysplasia Ossificans Progressiva Patient on Osteoblastic Cells - Open Journal of Endocrine and Metabolic Diseases

OJEMD > Vol.2 No.1, February 2012

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

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DOI: 10.4236/ojemd.2012.21001 3,833 Downloads 8,999 Views Citations

Author(s)

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

Affiliation(s)

Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
Division of Pathophysiology, Research Center for Genomic Medicine, Saitama Medical University, Japan.
Internal Medicine 1, Shimane University Faculty of Medicine, Izumo, Japan.
Kawara Clinic, Kobe, Japan.

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.

KEYWORDS

Fibrodysplasia Ossificans Progressiva; Osteoblast; Bone Morphogenetic Protein

Share and Cite:

I. Hisa, A. Kawara, T. Katagiri, T. Sugimoto and H. Kaji, "Effects of Serum from a Fibrodysplasia Ossificans Progressiva Patient on Osteoblastic Cells," Open Journal of Endocrine and Metabolic Diseases, Vol. 2 No. 1, 2012, pp. 1-6. doi: 10.4236/ojemd.2012.21001.

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