| Autor | Kaneto, Carla Martins | |
| Autor | Lima, Patrícia Santos Pereira | |
| Autor | Zanette, Dalila Lucíola | |
| Autor | Oliveira, Thiago Yukio Kikuchi | |
| Autor | Pereira, Francisco de Assis | |
| Autor | Lorenzi, Julio Cesar Cetrulo | |
| Autor | Santos, Jane Lima dos | |
| Autor | Prata, Karen L | |
| Autor | Pina Neto, João Monteiro de | |
| Autor | Paula, Francisco José Albuquerque de | |
| Autor | Silva Junior, Wilson Araújo da | |
| Data de acesso | 2017-04-11T17:12:03Z | |
| Data de disponibilização | 2017-04-11T17:12:03Z | |
| Data do publicação | 2016 | |
| Citação | CANETO, C. M. et al. Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome. BMC Medical Genetics, v. 17, p. 38, 2016. | pt_BR |
| ISSN | 1471-2350 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/18390 | |
| Descrição | 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”. | pt_BR |
| Fomento | FAPESP, CNPq, and Center for Cell-based Therapy. | pt_BR |
| Idioma | eng | pt_BR |
| Editor | BioMed Central | pt_BR |
| Direito Autoral | open access | pt_BR |
| Palavras-chave | Sindrome de Bruck | pt_BR |
| Palavras-chave | Osteogênese | pt_BR |
| Palavras-chave | Célula estromal mesenquimal da medula óssea | pt_BR |
| Palavras-chave | Diferenciação osteogénica | pt_BR |
| Palavras-chave | Expressão génica | pt_BR |
| Título | Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome | pt_BR |
| Tipo do documento | Article | pt_BR |
| DOI | 10.1186/s12881-016-0301-7 | |
| Resumo em Inglês | Osteogenesis 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 patients | pt_BR |
| Afiliação | 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, Brazil | pt_BR |
| Afiliação | Universidade Estadual do Sudoeste da Bahia. Department of Natural Science. Vitória da Conquista, BA, Brazil | pt_BR |
| Afiliação | Universidade 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, Brazil | pt_BR |
| Afiliação | The Rockefeller University. Laboratory of Molecular Immunology. New York, NY, USA | pt_BR |
| Afiliação | Universidade Federal de Sergipe. Department of Internal Medicine and Pathology. Aracaju, SE, Brazil | pt_BR |
| Afiliação | The Rockefeller University. Laboratory of Molecular Immunology. New York, NY, USA | pt_BR |
| Afiliação | Universidade Estadual de Santa Cruz. Biological Science. Ilheus, BA, Brazil | pt_BR |
| Afiliação | National Institute of Science and Technology in Cell Therapy. Regional Blood Center of Ribeirão Preto. Ribeirão Preto, SP, Brazil | pt_BR |
| Afiliação | Universidade de São Paulo. Escola Medica de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, Brasil | pt_BR |
| Afiliação | Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Department of Clinical Medicine. Ribeirão Preto, SP, Brazil | pt_BR |
| Afiliação | Universidade de São Paulo. Escola Medica de Ribeirão Preto. Departamento de Genética. Ribeirão Preto, SP, Brasil / Universidade Estadual de Santa Cruz. Biological Science. Ilheus, BA, Brazil | pt_BR |
| Palavras-chave em inglês | Bruck syndrome | pt_BR |
| Palavras-chave em inglês | Osteogenesis Imperfecta | pt_BR |
| Palavras-chave em inglês | Bone marrow mesenchymal stromal cell | pt_BR |
| Palavras-chave em inglês | Osteogenic differentiation | pt_BR |
| Palavras-chave em inglês | Gene expression | pt_BR |
