- 著者
- 
             
             Deborah Ribeiro Nascimento
             
             Suzana Lopes Bomfim Balaniuc
             
             Durval Batista Palhares
             
             Adam Underwood
             
             Marilene Garcia Palhares
             
             Fabiana Alves
             
             Francisco Oliveira Vieira
             
             Elaine Maria Souza-Fagundes
             
             Liane De Rosso Giuliani
             
             Paula Cristhina Niz Xavier
             
             Helen Lima Del Puerto
             
             Robson Augusto Souza Santos
             
             Amy Milsted
             
             Jose Mauro Brum
             
             Iandara Schettert Silva
             
             Almir Sousa Martins
             
          
- 出版者
- International Research and Cooperation Association for Bio & Socio-Sciences Advancement
- 雑誌
- Intractable & Rare Diseases Research (ISSN:21863644)
- 巻号頁・発行日
- pp.2021.01012,  (Released:2021-05-22)
- 参考文献数
- 54
        Fibrodysplasia Ossificans Progressiva (FOP) is a rare congenital intractable disease associated with a mutation in ACVR1 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. ACVR1, ADCY2, ADCY9 and COL3 were downregulated while COL1 was upregulated. ADRB1, ADRB2, RUNX2, TNF-α and ACTB, were all overexpressed in FOP PBMC. In control, AA upregulated COL1, SVCT1, ACTB, AGTR2 and downregulated ADCY2. In FOP cells, AA upregulated ACVR1, BMP4, COL1, COL3, TNF-α, ADCY2, ADCY9, AGTR2 and MAS, while downregulated ADBR2, RUNX2, ADCY1, SVCT1 and ACTB. PP increased ADBR1 and decreased RUNX2, TNF-α, AGTR1, ACTB and CHRNA7 genes in treated control PBMC compared to untreated. PP upregulated ADBR1, ADBR2 and MAS, and downregulated TNF-α and ACTB in treated FOP PBMC versus untreated. AA+PP augmented ADRB1 and ADRB2 expressions in control PBMC. In FOP PBMC, AA+PP augmented ACVR1, COL1, COL3, ADBR1, AGTR2 and MAS expression and downregulated ADBR2, RUNX2, ACTB and MRGD. These data show distinct gene expression modulation in leukocytes from FOP patients when treated with AA and or PP.