Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome

Detalhes bibliográficos
Autor(a) principal: Kaneto, Carla Martins
Data de Publicação: 2016
Outros Autores: Lima, Patrícia Santos Pereira, Zanette, Dalila Lucíola, Oliveira, Thiago Yukio Kikuchi, Pereira, Francisco de Assis, Lorenzi, Julio Cesar Cetrulo, Santos, Jane Lima dos, Prata, Karen L, Pina Neto, João Monteiro de, Paula, Francisco José Albuquerque de, Silva Junior, Wilson Araújo da
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/18390
Resumo: Zanette, D. L. Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
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spelling Kaneto, Carla MartinsLima, Patrícia Santos PereiraZanette, Dalila LucíolaOliveira, Thiago Yukio KikuchiPereira, Francisco de AssisLorenzi, Julio Cesar CetruloSantos, Jane Lima dosPrata, Karen LPina Neto, João Monteiro dePaula, Francisco José Albuquerque deSilva Junior, Wilson Araújo da2017-04-11T17:12:03Z2017-04-11T17:12:03Z2016CANETO, C. M. et al. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. BMC Medical Genetics, v. 17, p. 38, 2016.1471-2350https://www.arca.fiocruz.br/handle/icict/1839010.1186/s12881-016-0301-7Zanette, D. L. Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.FAPESP, CNPq, and Center for Cell-based Therapy.Universidade de São Paulo. Escola Medica de Ribeirão Preto. Departamento de Genetica. Ribeirão Preto, SP, Brasil / Universidade Estadual de Santa Cruz. Biological Science. Ilheus, BA, BrazilUniversidade Estadual do Sudoeste da Bahia. Department of Natural Science. Vitória da Conquista, BA, BrazilUniversidade de São Paulo. Escola Medica de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, Brasil / National Institute of Science and Technology in Cell Therapy. Regional Blood Center of Ribeirão Preto. Ribeirão Preto, SP, BrazilThe Rockefeller University. Laboratory of Molecular Immunology. New York, NY, USAUniversidade Federal de Sergipe. Department of Internal Medicine and Pathology. Aracaju, SE, BrazilThe Rockefeller University. Laboratory of Molecular Immunology. New York, NY, USAUniversidade Estadual de Santa Cruz. Biological Science. Ilheus, BA, BrazilNational Institute of Science and Technology in Cell Therapy. Regional Blood Center of Ribeirão Preto. Ribeirão Preto, SP, BrazilUniversidade de São Paulo. Escola Medica de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, BrasilUniversidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Department of Clinical Medicine. Ribeirão Preto, SP, BrazilUniversidade de São Paulo. Escola Medica de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, Brasil / Universidade Estadual de Santa Cruz. Biological Science. Ilheus, BA, BrazilOsteogenesis Imperfecta (OI) (OMIM %259450) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. The majority of OI cases are caused by mutations in COL1A1 or COL1A2. Bruck Syndrome (BS) is a further recessively-inherited OI-like phenotype in which bone fragility is associated with the unusual finding of pterygia and contractures of the large joints. Notably, several studies have failed to show any abnormalities in the biosynthesis of collagen 1 in BS patientes. Evidence was obtained for a specific defect of the procollagen telopeptide lysine hydroxylation in BS, whereas mutations in the gene PLOD2 have been identified. Recently, several studies described FKBP10 mutations in OI-like and BS patients, suggesting that FKBP10 is a bonafide BS locus. Methods: We analyzed the coding region and intron/exon boundaries of COL1A1, COL1A2, PLOD2 and FKBP10 genes by sequence analysis using an ABI PRISM 3130 automated sequencer and Big Dye Terminator Sequencing protocol. Mononuclear cells obtained from the bone marrow of BS, OI patients and healthy donors were cultured and osteogenic differentiation was induced. The gene expression of osteoblast specific markers were also evaluated during the osteoblastic differentiation of mesenchymal stem cell (MSC) by qRT-PCR using an ABI7500 Sequence Detection System. Results: No mutations in COL1A1, COL1A2 or PLOD2 were found in BS patient. We found a homozygous 1-base-pair duplication (c.831dupC) that is predicted to produce a translational frameshift mutation and a premature protein truncation 17 aminoacids downstream (p.Gly278ArgfsX95). The gene expression of osteoblast specific markers BGLAP, COL1A1, MSX2, SPARC and VDR was evaluated by Real Time RT-PCR during differentiation into osteoblasts and results showed similar patterns of osteoblast markers expression in BS and healthy controls. On the other hand, when compared with OI patients, the expression pattern of these genes was found to be different. Conclusions: Our work suggests that the gene expression profiles observed during mesenchymal stromal cell differentiation into osteoblast are distinct in BS patients as compared to OI patients. The present study shows for the first time that genes involved in osteogenesis are differentially expressed in BS and OI patientsengBioMed CentralSindrome de BruckOsteogêneseCélula estromal mesenquimal da medula ósseaDiferenciação osteogénicaExpressão génicaBruck syndromeOsteogenesis ImperfectaBone marrow mesenchymal stromal cellOsteogenic differentiationGene expressionOsteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndromeinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/18390/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALKaneto CM Osteoblastic differentiation....pdfKaneto CM Osteoblastic 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dc.title.pt_BR.fl_str_mv Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
title Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
spellingShingle Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
Kaneto, Carla Martins
Sindrome de Bruck
Osteogênese
Célula estromal mesenquimal da medula óssea
Diferenciação osteogénica
Expressão génica
Bruck syndrome
Osteogenesis Imperfecta
Bone marrow mesenchymal stromal cell
Osteogenic differentiation
Gene expression
title_short Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
title_full Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
title_fullStr Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
title_full_unstemmed Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
title_sort Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome
author Kaneto, Carla Martins
author_facet Kaneto, Carla Martins
Lima, Patrícia Santos Pereira
Zanette, Dalila Lucíola
Oliveira, Thiago Yukio Kikuchi
Pereira, Francisco de Assis
Lorenzi, Julio Cesar Cetrulo
Santos, Jane Lima dos
Prata, Karen L
Pina Neto, João Monteiro de
Paula, Francisco José Albuquerque de
Silva Junior, Wilson Araújo da
author_role author
author2 Lima, Patrícia Santos Pereira
Zanette, Dalila Lucíola
Oliveira, Thiago Yukio Kikuchi
Pereira, Francisco de Assis
Lorenzi, Julio Cesar Cetrulo
Santos, Jane Lima dos
Prata, Karen L
Pina Neto, João Monteiro de
Paula, Francisco José Albuquerque de
Silva Junior, Wilson Araújo da
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Kaneto, Carla Martins
Lima, Patrícia Santos Pereira
Zanette, Dalila Lucíola
Oliveira, Thiago Yukio Kikuchi
Pereira, Francisco de Assis
Lorenzi, Julio Cesar Cetrulo
Santos, Jane Lima dos
Prata, Karen L
Pina Neto, João Monteiro de
Paula, Francisco José Albuquerque de
Silva Junior, Wilson Araújo da
dc.subject.other.pt_BR.fl_str_mv Sindrome de Bruck
Osteogênese
Célula estromal mesenquimal da medula óssea
Diferenciação osteogénica
Expressão génica
topic Sindrome de Bruck
Osteogênese
Célula estromal mesenquimal da medula óssea
Diferenciação osteogénica
Expressão génica
Bruck syndrome
Osteogenesis Imperfecta
Bone marrow mesenchymal stromal cell
Osteogenic differentiation
Gene expression
dc.subject.en.pt_BR.fl_str_mv Bruck syndrome
Osteogenesis Imperfecta
Bone marrow mesenchymal stromal cell
Osteogenic differentiation
Gene expression
description Zanette, D. L. Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
publishDate 2016
dc.date.issued.fl_str_mv 2016
dc.date.accessioned.fl_str_mv 2017-04-11T17:12:03Z
dc.date.available.fl_str_mv 2017-04-11T17:12:03Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv CANETO, C. M. et al. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. BMC Medical Genetics, v. 17, p. 38, 2016.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/18390
dc.identifier.issn.pt_BR.fl_str_mv 1471-2350
dc.identifier.doi.none.fl_str_mv 10.1186/s12881-016-0301-7
identifier_str_mv CANETO, C. M. et al. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. BMC Medical Genetics, v. 17, p. 38, 2016.
1471-2350
10.1186/s12881-016-0301-7
url https://www.arca.fiocruz.br/handle/icict/18390
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
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instacron_str FIOCRUZ
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reponame_str Repositório Institucional da FIOCRUZ (ARCA)
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