A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity

Detalhes bibliográficos
Autor(a) principal: Fonseca, Ana Carolina Proença da
Data de Publicação: 2021
Outros Autores: Abreu, Gabriella de Medeiros, Palhinha, Lohanna, Zembrzuski, Verônica Marques, Campos Junior, Mario, Carneiro, João Regis Ivar, Nogueira Neto, José Firmino, Magno, Fernanda Cristina C Mattos, Rosado, Eliane Lopes, Monteiro, Clarissa Menezes Maya, Cabello, Giselda Maria Kalil de, Cabello, Pedro Hernán, Bozza, Patricia Torres
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/46283
Resumo: Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Imunofarmacologia. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.
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spelling Fonseca, Ana Carolina Proença daAbreu, Gabriella de MedeirosPalhinha, LohannaZembrzuski, Verônica MarquesCampos Junior, MarioCarneiro, João Regis IvarNogueira Neto, José FirminoMagno, Fernanda Cristina C MattosRosado, Eliane LopesMonteiro, Clarissa Menezes MayaCabello, Giselda Maria Kalil deCabello, Pedro HernánBozza, Patricia Torres2021-03-07T20:14:20Z2021-03-07T20:14:20Z2021FONSECA, Ana Carolina Proença da et al. A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity. Diabetes, Metabpçoc Syndrome and Obesity: Targets and Therapy, v. 14, p. 11-22, Jan. 2021.1178-7007https://www.arca.fiocruz.br/handle/icict/4628310.2147/DMSO.S267202engDovePressObesidade de início precoceSíndrome metabólicaObesidade severaMutação raraFator Neurotrófico Derivado do EncéfaloBDNFEarly-onset obesityMetabolic syndromeSevere obesityRare mutationFator Neurotrófico Derivado do EncéfaloA Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesityinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Imunofarmacologia. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Imunofarmacologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Hospital Universitário Clementino Fraga Filho. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Departamento de Patologia e Laboratórios. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Nutrição Josué de Castro. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Nutrição Josué de Castro. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Imunofarmacologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Grande Rio. Laboratóriode Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Imunofarmacologia. Rio de Janeiro, RJ, Brasil.Background: Brain-derived neurotrophic factor (BDNF) is a pro-survival factor in the brain that also regulates energy balance. BDNF loss-of-function point mutations are responsible for haploinsufficiency, causing severe early-onset obesity. Up to date, only a few studies have sequenced this gene to search for rare mutations related to obesity. In this study, we aimed to investigate the prevalence of BDNF variants in a cohort of adults with severe obesity from Brazil. Material and methods: This study comprised 201 adults with severe obesity (BMI ≥ 35.0 kg/m2) with onset during childhood- or adolescence/youth. As controls, 73 subjects with normal weight (18.5 ≤ BMI ≤ 24.9 kg/m2) were selected. The exclusion criteria were pregnancy, lactation, the use of medication to lose or gain weight, and the presence of symptoms suggestive of syndromic obesity (only for the case group). The coding region of the BDNF gene was screened by Sanger sequencing. Demographic, anthropometric, and blood pressure parameters were obtained from the participants as well as serum hormone and cytokines concentrations and biochemical values. Results: As a result, three missense variants [p.(Thr2Ile), p.(Val66Met), and p.(Arg209Gln)] and four synonymous variants (p.Leu107=, p.Thr149=, p.Ala150=, and p.Ser213=) were identified. The p.(Arg209Gln) was predicted as pathogenic by all in silico algorithms used and was not observed in the control group. The individuals carrying the p.(Val66Met) mutated allele had higher waist circumference, HDL-cholesterol and MCP1 levels, and reduced risk of developing metabolic syndrome. Conclusion: We observed that the common BDNF p.(Val66Met) variant has influenced waist circumference, HDL-cholesterol, and MCP1 levels. This polymorphism has also a protective effect on metabolic syndrome susceptibility. Additionally, we described for the first time a rare potentially pathogenic BDNF variant in a Brazilian patient with severe obesity and childhood-onset.info: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/46283/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALAnaCarolinaPF_ClarissaMOnteiro2_etal_IOC_2021.pdfAnaCarolinaPF_ClarissaMOnteiro2_etal_IOC_2021.pdfapplication/pdf2144788https://www.arca.fiocruz.br/bitstream/icict/46283/2/AnaCarolinaPF_ClarissaMOnteiro2_etal_IOC_2021.pdfa3ae9e802a50fc8f5a53f56655cfde34MD52TEXTAnaCarolinaPF_ClarissaMOnteiro2_etal_IOC_2021.pdf.txtAnaCarolinaPF_ClarissaMOnteiro2_etal_IOC_2021.pdf.txtExtracted 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dc.title.pt_BR.fl_str_mv A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
title A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
spellingShingle A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
Fonseca, Ana Carolina Proença da
Obesidade de início precoce
Síndrome metabólica
Obesidade severa
Mutação rara
Fator Neurotrófico Derivado do Encéfalo
BDNF
Early-onset obesity
Metabolic syndrome
Severe obesity
Rare mutation
Fator Neurotrófico Derivado do Encéfalo
title_short A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
title_full A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
title_fullStr A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
title_full_unstemmed A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
title_sort A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity
author Fonseca, Ana Carolina Proença da
author_facet Fonseca, Ana Carolina Proença da
Abreu, Gabriella de Medeiros
Palhinha, Lohanna
Zembrzuski, Verônica Marques
Campos Junior, Mario
Carneiro, João Regis Ivar
Nogueira Neto, José Firmino
Magno, Fernanda Cristina C Mattos
Rosado, Eliane Lopes
Monteiro, Clarissa Menezes Maya
Cabello, Giselda Maria Kalil de
Cabello, Pedro Hernán
Bozza, Patricia Torres
author_role author
author2 Abreu, Gabriella de Medeiros
Palhinha, Lohanna
Zembrzuski, Verônica Marques
Campos Junior, Mario
Carneiro, João Regis Ivar
Nogueira Neto, José Firmino
Magno, Fernanda Cristina C Mattos
Rosado, Eliane Lopes
Monteiro, Clarissa Menezes Maya
Cabello, Giselda Maria Kalil de
Cabello, Pedro Hernán
Bozza, Patricia Torres
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Fonseca, Ana Carolina Proença da
Abreu, Gabriella de Medeiros
Palhinha, Lohanna
Zembrzuski, Verônica Marques
Campos Junior, Mario
Carneiro, João Regis Ivar
Nogueira Neto, José Firmino
Magno, Fernanda Cristina C Mattos
Rosado, Eliane Lopes
Monteiro, Clarissa Menezes Maya
Cabello, Giselda Maria Kalil de
Cabello, Pedro Hernán
Bozza, Patricia Torres
dc.subject.other.pt_BR.fl_str_mv Obesidade de início precoce
Síndrome metabólica
Obesidade severa
Mutação rara
Fator Neurotrófico Derivado do Encéfalo
topic Obesidade de início precoce
Síndrome metabólica
Obesidade severa
Mutação rara
Fator Neurotrófico Derivado do Encéfalo
BDNF
Early-onset obesity
Metabolic syndrome
Severe obesity
Rare mutation
Fator Neurotrófico Derivado do Encéfalo
dc.subject.en.pt_BR.fl_str_mv BDNF
Early-onset obesity
Metabolic syndrome
Severe obesity
Rare mutation
dc.subject.decs.pt_BR.fl_str_mv Fator Neurotrófico Derivado do Encéfalo
description Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Imunofarmacologia. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.
publishDate 2021
dc.date.accessioned.fl_str_mv 2021-03-07T20:14:20Z
dc.date.available.fl_str_mv 2021-03-07T20:14:20Z
dc.date.issued.fl_str_mv 2021
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 FONSECA, Ana Carolina Proença da et al. A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity. Diabetes, Metabpçoc Syndrome and Obesity: Targets and Therapy, v. 14, p. 11-22, Jan. 2021.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/46283
dc.identifier.issn.pt_BR.fl_str_mv 1178-7007
dc.identifier.doi.none.fl_str_mv 10.2147/DMSO.S267202
identifier_str_mv FONSECA, Ana Carolina Proença da et al. A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity. Diabetes, Metabpçoc Syndrome and Obesity: Targets and Therapy, v. 14, p. 11-22, Jan. 2021.
1178-7007
10.2147/DMSO.S267202
url https://www.arca.fiocruz.br/handle/icict/46283
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv DovePress
publisher.none.fl_str_mv DovePress
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
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instacron_str FIOCRUZ
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reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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