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http://hdl.handle.net/1843/71246
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DC Field | Value | Language |
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dc.creator | Deborah Ribeironascimento | pt_BR |
dc.creator | Paula Cristhina Niz Xavier | pt_BR |
dc.creator | Helen Lima Del Puerto | pt_BR |
dc.creator | Robson Augusto Souza Santos | pt_BR |
dc.creator | Amy Milsted | pt_BR |
dc.creator | Jose Mauro Brum | pt_BR |
dc.creator | Iandara Schettert Silva | pt_BR |
dc.creator | Almir Sousa Martins | pt_BR |
dc.creator | Suzana Lopes Bomfim Balaniuc | pt_BR |
dc.creator | Durval Batista Palhares | pt_BR |
dc.creator | Adam Underwood | pt_BR |
dc.creator | Marilene Garcia Palhares | pt_BR |
dc.creator | Fabiana Alves | pt_BR |
dc.creator | Francisco Oliveira Vieira | pt_BR |
dc.creator | Elaine Maria de Souza Fagundes | pt_BR |
dc.creator | Liane de Rosso Giuliani | pt_BR |
dc.date.accessioned | 2024-07-23T20:51:47Z | - |
dc.date.available | 2024-07-23T20:51:47Z | - |
dc.date.issued | 2021 | - |
dc.citation.volume | 10 | pt_BR |
dc.citation.issue | 3 | pt_BR |
dc.citation.spage | 179 | pt_BR |
dc.citation.epage | 189 | pt_BR |
dc.identifier.doi | https://doi.org/10.5582/irdr.2021.01012 | pt_BR |
dc.identifier.issn | 2186361X | pt_BR |
dc.identifier.uri | http://hdl.handle.net/1843/71246 | - |
dc.description.abstract | A Fibrodisplasia Ossificante Progressiva (FOP) é uma doença congênita rara e intratável associada com mutação no gene ACVR1, caracterizada por malformações esqueléticas. Ácido ascórbico (AA) e propranolol (PP) em combinação minimizam os surtos em pacientes. Leucócito FOP fenótipo pode possivelmente ser modulado pelo tratamento com AA e PP. Neste estudo, a expressão de 22 potenciais genes alvo foram analisados por RT-PCR em cultura de células mononucleares do sangue periférico (PBMC) de pacientes com FOP e controles para determinar a eficácia da terapia combinada. PBMC foram tratados com combinação AA, PP e AA+PP. Expressão basal de 12 dos 22 genes na FOP PBMC foi estatisticamente diferente dos controles. ACVR1, ADCY2, ADCY9 e COL3 foram regulados negativamente enquanto COL1 foi regulado positivamente. ADRB1, ADRB2, RUNX2, TNF-α e ACTB, foram todos superexpressos em FOP PBMC. No controle, AA regulou positivamente COL1, SVCT1, ACTB, AGTR2 e regulou negativamente ADCY2. Nas células FOP, o AA regulou positivamente ACVR1, BMP4, COL1, COL3, TNF-α, ADCY2, ADCY9, AGTR2 e MAS, enquanto regulava negativamente ADBR2, RUNX2, ADCY1, SVCT1 e ACTB. PP aumentou ADBR1 e diminuição dos genes RUNX2, TNF-α, AGTR1, ACTB e CHRNA7 em PBMC de controle tratado em comparação com não tratado. PP regulou positivamente ADBR1, ADBR2 e MAS, e regulou negativamente TNF-α e ACTB em tratados FOP PBMC versus não tratado. Expressões ADRB1 e ADRB2 aumentadas por AA + PP no controle PBMC. Na FOP PBMC, AA+PP aumentou a expressão de ACVR1, COL1, COL3, ADBR1, AGTR2 e MAS e ADBR2, RUNX2, ACTB e MRGD regulados negativamente. Esses dados mostram expressão genética distinta modulação em leucócitos de pacientes com FOP quando tratados com AA e/ou PP | pt_BR |
dc.description.resumo | 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 | pt_BR |
dc.format.mimetype | pt_BR | |
dc.language | eng | pt_BR |
dc.publisher | Universidade Federal de Minas Gerais | pt_BR |
dc.publisher.country | Brasil | pt_BR |
dc.publisher.department | ICB - DEPARTAMENTO DE FISIOLOGIA E BIOFÍSICA | pt_BR |
dc.publisher.initials | UFMG | pt_BR |
dc.relation.ispartof | Intractable & Rare Diseases Research | pt_BR |
dc.rights | Acesso Aberto | pt_BR |
dc.subject | Gene Expression | pt_BR |
dc.subject | Leukocytes, Mononuclear | pt_BR |
dc.subject | Myositis Ossificans | pt_BR |
dc.subject.other | Leucócitos Mononucleares | pt_BR |
dc.subject.other | Expressão Gênica | pt_BR |
dc.title | Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment | pt_BR |
dc.title.alternative | Fibrodisplasia ossificante progressiva rara e intratável mostra fenótipo diferente de PBMC possivelmente modulado por ácido ascórbico e tratamento com propranolol | pt_BR |
dc.type | Artigo de Periódico | pt_BR |
dc.url.externa | https://www.jstage.jst.go.jp/article/irdr/10/3/10_2021.01012/_article | pt_BR |
Appears in Collections: | Artigo de Periódico |
Files in This Item:
File | Description | Size | Format | |
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Rare and intractable fibrodysplasia ossificans progressiva.pdfA.pdf | 646.72 kB | Adobe PDF | View/Open |
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