Título:	Caracterização morfológica de tecidos e fibroblastos gengivais de pacientes com Síndrome Esmalte Renal e Síndrome de Raine
Autor(es):	Costa, Cláudio Rodrigues Rezende
E-mail do autor:	claudim_odonto@yahoo.com.br
Orientador(es):	Poppe, Ana Carolina Acevedo
Coorientador(es):	Amorim, Bruna Rabelo
Assunto:	Gengiva Síndrome esmalte renal Síndrome de Raine Fibromatose gengival Fibroblastos
Data de publicação:	20-Mai-2021
Data de defesa:	11-Fev-2021
Referência:	COSTA, Cláudio Rodrigues Rezende. Caracterização morfológica de tecidos e fibroblastos gengivais de pacientes com síndrome Esmalte Renal e síndrome de Raine. 2021. 153 f., il. Tese (Doutorado em Ciências da Saúde)—Universidade de Brasília, Brasília, 2021.
Abstract:	Gingival fibromatosis (GF) can be defined as a gingival overgrowth characterized by a fibrous increase of connective tissue and can be seen as part of the Renal Enamel (ERS) and Raine syndrome (RNS) syndromes. ERS and RNS are caused by pathogenic recessive variants in the genes that encode proteins FAM20A and FAM20C and both manifest oro-dental abnormalities and ectopic calcifications in connective tissue. This study aimed to: 1) perform a systematic review of the available literature in order to synthesize the clinical and genetic aspects of syndromes with gingival fibromatosis, 2) to analyze the histopathological characteristics of the gingiva of a patient with ERS and two patients from unrelated families with RNS being followed up at the Oral Care Center for Inherited Diseases, University Hospital of Brasilia and 3) establishe and characterize primary cultures of gingival fibroblasts (hGFCs) from tissues donated by the three syndromic patients and five control individuals. The systematic review identified ERS as the syndrome with the highest frequency of reported gingival fibromatosis, followed by Zimmermann-Laband syndromes and Costello syndrome. Hypertrichosis, ectopic gingival calcifications and cherubism were other clinical manifestations described in the reported cases. The most frequently described pathogenic variants were those of the FAM20A gene. The results of the histological analysis confirmed the diagnosis of gingival fibromatosis and showed the presence of ectopic calcifications in the analyzed tissues. In addition, the expression of FAM20A, FAM20C in the gingival tissues of ERS and RNS patients was demonstrated, as well as the expression of α-SMA in an RNS patient. As for the primary cultures of gingival control fibroblasts, ERS and RNS, a decrease in viability and proliferation of ERS and RNS hGFCs was observed. In addition, RNS fibroblast nuclei appeared to have a significant increase in size when compared to control cells (p <0.0001). The expression of FAM20A, FAM20C was also observed in the cell cytoplasm of all hGFCs and α SMA labelling was observed in ERS and RNS hGFCs. An under expression of ERK in the ERS and RNS fibroblasts in relation to the control was observed, suggesting that the ERK pathway may be altered in both syndromes. Finally, this study demonstrated the capability of ERS and RNS fibroblasts to form mineral nodules. The present results expand the knowledge in some biological aspects of the syndromes pathogenesis, however, further studies and post transcriptional analyzes are needed to elucidate the mechanisms that result in gingival abnormalities and to further understand the role of FAM20A and FAM20C proteins in the pathogenesis of ERS and RNS.
Unidade Acadêmica:	Faculdade de Ciências da Saúde (FS)
Informações adicionais:	Tese (Doutorado)—Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-Graduação em Ciências da Saúde, 2021.
Programa de pós-graduação:	Programa de Pós-Graduação em Ciências da Saúde
Licença:	A concessão da licença deste item refere-se ao termo de autorização impresso assinado pelo autor com as seguintes condições: Na qualidade de titular dos direitos de autor da publicação, autorizo a Universidade de Brasília e o IBICT a disponibilizar por meio dos sites www.bce.unb.br, www.ibict.br, http://hercules.vtls.com/cgi-bin/ndltd/chameleon?lng=pt&skin=ndltd sem ressarcimento dos direitos autorais, de acordo com a Lei nº 9610/98, o texto integral da obra disponibilizada, conforme permissões assinaladas, para fins de leitura, impressão e/ou download, a título de divulgação da produção científica brasileira, a partir desta data.
Agência financiadora:	Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
Aparece nas coleções:	Teses, dissertações e produtos pós-doutorado

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