Rare and Intractable Fibrodysplasia Ossificans Progressiva Shows Different PBMC Phenotype Possibly Modulated by Ascorbic Acid and Propranolol Treatment

Fibrodysplasia Ossificans Progressiva (FOP) is a rare congenital intractable disease associated with a mutation in gene, characterized by skeleton malformations. Ascorbic acid (AA) and propranolol (PP) in combination is reported to minimize flare-ups in patients. FOP leukocyte phenotype may possibly be modulated by AA and PP treatment. In this study, expression of 22 potential target genes was analyzed by RT-PCR in peripheral blood mononuclear cells culture (PBMC) from FOP patients and controls to determine effectiveness of the combination therapy. PBMC were treated with AA, PP and AA+PP combination. Basal expression of 12 of the 22 genes in FOP PBMC was statistically different from controls. , , and were downregulated while was upregulated. , , , and , were all overexpressed in FOP PBMC. In control, AA upregulated and downregulated . In FOP cells, AA upregulated , and , while downregulated and . PP increased and decreased and genes in treated control PBMC compared to untreated. PP upregulated and , and downregulated and in treated FOP PBMC versus untreated. AA+PP augmented and expressions in control PBMC. In FOP PBMC, AA+PP augmented and expression and downregulated and . These data show distinct gene expression modulation in leukocytes from FOP patients when treated with AA and or PP.

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