Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Tipo de documento: | Trabalho de conclusão de curso |
Idioma: | por |
Título da fonte: | Repositório Institucional da UFRN |
Texto Completo: | https://repositorio.ufrn.br/handle/123456789/43265 |
Resumo: | Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare recessive autosomal disease characterized by nearly complete absence of adipose tissue, resulting in disturbs on carbohydrates and lipids metabolism, insulin resistance and variable cognitive impairments. It was described that northeastern Brazil has the higher BSCL prevalence in the country. Recently, some studies suggested a role of reactive oxygen species (ROS) on BSCL physiopathology. Moreover, mitochondrial dysfunction leading to oxidized DNA damage has been associated to the mutations found in BSCL patients. Since Base Excision DNA Repair (BER) pathway is involved in the removal of oxidized DNA lesions, the purpose of this study was to evaluate the mRNA expression profile of the mainly BER enzymes (APE-1, OGG1 and PARP-1) in BSCL peripheral blood cells and analyze the rate of oxidative damaged purines in those genomes. The results showed an increase of 305% and 335% on APEX1 and OGG1 mRNA expression mean, respectively, while an increase of 65% was observed on PARP1 mRNA expression mean in peripheral blood cells of BSCL people when compared with controls. We also observed almost equivalent averages between the rates of damage purines in the genome compared with controls. We supposed that the oxidative lesion rate between these groups is almost the same. The necessity of an enhanced transcription to supply a DNA repair demand on BSCL people could explain the equivalence between DNA oxidative damage between the groups. However, APE-1 and OGG-1 could have been recruited not only to repair, but also to another pathways in that peripheral blood cells. Besides, PARP-1 downregulation is an expected phenomenon in adipose tissue disturbance, because of relation between that enzyme functions and adipocyte differentiation. |
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Sarmento, Aquiles Sales CraveiroAgnez-Lima, Lucymara FassarellaLima, Josivan Gomes deFerreira, Leonardo Capistrano2017-05-03T14:45:14Z2021-10-06T11:18:21Z2017-05-03T14:45:14Z2021-10-06T11:18:21Z20162012911565SARMENTO, Aquiles Sales Craveiro. Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil. 2016. 70 f. TCC (Graduação) - Curso de Biomedicina, Universidade Federal do Rio Grande do Norte, Natal, 2016.https://repositorio.ufrn.br/handle/123456789/43265Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare recessive autosomal disease characterized by nearly complete absence of adipose tissue, resulting in disturbs on carbohydrates and lipids metabolism, insulin resistance and variable cognitive impairments. It was described that northeastern Brazil has the higher BSCL prevalence in the country. Recently, some studies suggested a role of reactive oxygen species (ROS) on BSCL physiopathology. Moreover, mitochondrial dysfunction leading to oxidized DNA damage has been associated to the mutations found in BSCL patients. Since Base Excision DNA Repair (BER) pathway is involved in the removal of oxidized DNA lesions, the purpose of this study was to evaluate the mRNA expression profile of the mainly BER enzymes (APE-1, OGG1 and PARP-1) in BSCL peripheral blood cells and analyze the rate of oxidative damaged purines in those genomes. The results showed an increase of 305% and 335% on APEX1 and OGG1 mRNA expression mean, respectively, while an increase of 65% was observed on PARP1 mRNA expression mean in peripheral blood cells of BSCL people when compared with controls. We also observed almost equivalent averages between the rates of damage purines in the genome compared with controls. We supposed that the oxidative lesion rate between these groups is almost the same. The necessity of an enhanced transcription to supply a DNA repair demand on BSCL people could explain the equivalence between DNA oxidative damage between the groups. However, APE-1 and OGG-1 could have been recruited not only to repair, but also to another pathways in that peripheral blood cells. Besides, PARP-1 downregulation is an expected phenomenon in adipose tissue disturbance, because of relation between that enzyme functions and adipocyte differentiation.A síndrome de Berardinelli-Seip (BSCL) é uma lipodistrofia autossômica recessiva rara caracterizada pela ausência quase completa do tecido adiposo, resultando em distúrbios no metabolismo de carboidratos e lipídios, resistência à insulina e deficiências cognitivas variáveis. Já foi visto que o Nordeste do Brasil tem a maior prevalência da BSCL no Brasil. Recentemente, alguns estudos sugeriram um papel das espécies reativas de oxigénio (ROS) na fisiopatologia da síndrome. Além disso, disfunção mitocondrial que conduz a danos oxidados no DNA também tem sido uma hipótese associada com as mutações encontradas em pacientes com BSCL. Uma vez que o Reparo por Excisão de Bases (BER) está envolvido na remoção de lesões oxidadas no DNA, o objetivo desse estudo foi avaliar o perfil de expressão de mRNA de importantes enzimas da via BER (APE-1, OGG1 e PARP-1), em células de sangue periférico de portadores da BSCL, bem como analisar a taxa de purinas com lesões oxidadas nesses genomas. As evidências apontaram um aumento médio de 305% na expressão de APEX1 e 335% na de OGG1, bem como uma diminuição média de 65% na expressão de PARP1 nas células do sangue periférico dos portadores da BSCL em relação aos controles. Também observamos que a comparação entre purinas danificadas entre os dois grupos apresentou médias muito próximas, indicando que, talvez, a taxa de lesões oxidadas entre os controles e os portadores seja muito parecida. Esses resultados sugerem que APE-1 e OGG1 poderiam estar sendo recrutadas não só para o reparo, como também para outras vias nessas células de sangue periférico. A necessidade de uma maior transcrição para suprir uma demanda de reparo nos portadores poderia explicar a equivalência entre os danos de DNA entre os dois grupos. Além disso, a diminuição de expressão de PARP-1 é um fenômeno esperado em distúrbios de tecido adiposo, por causa da relação direta entre as funções dessa enzima e a diferenciação de adipócitos.Universidade Federal do Rio Grande do NorteUFRNBrasilBiomedicinaGenes - PARP1PARP1Genes - APEX1APEX1Genes - OGG1OGG1Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/bachelorThesisinfo:eu-repo/semantics/openAccessporreponame:Repositório Institucional da UFRNinstname:Universidade Federal do Rio Grande do Norte (UFRN)instacron:UFRNTEXTExpressaodosGenes_Sarmento_2016.pdf.txtExtracted texttext/plain129880https://repositorio.ufrn.br/bitstream/123456789/43265/1/ExpressaodosGenes_Sarmento_2016.pdf.txtd491d4a6c13b7117018e6d857f071daaMD51PerfilExpressaoGenes_Sarmento_2016.pdf.txtExtracted texttext/plain129880https://repositorio.ufrn.br/bitstream/123456789/43265/2/PerfilExpressaoGenes_Sarmento_2016.pdf.txtd491d4a6c13b7117018e6d857f071daaMD52ORIGINALPerfilExpressaoGenes_Sarmento_2016.pdfMonografiaapplication/pdf1966028https://repositorio.ufrn.br/bitstream/123456789/43265/3/PerfilExpressaoGenes_Sarmento_2016.pdfb19f5f0ab602e3fd657a1875b1ec822cMD53LICENSElicense.txttext/plain756https://repositorio.ufrn.br/bitstream/123456789/43265/4/license.txta80a9cda2756d355b388cc443c3d8a43MD54123456789/432652021-10-06 08:18:21.539oai:https://repositorio.ufrn.br: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ório de PublicaçõesPUBhttp://repositorio.ufrn.br/oai/opendoar:2021-10-06T11:18:21Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)false |
dc.title.pr_BR.fl_str_mv |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil |
title |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil |
spellingShingle |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil Sarmento, Aquiles Sales Craveiro Genes - PARP1 PARP1 Genes - APEX1 APEX1 Genes - OGG1 OGG1 |
title_short |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil |
title_full |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil |
title_fullStr |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil |
title_full_unstemmed |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil |
title_sort |
Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil |
author |
Sarmento, Aquiles Sales Craveiro |
author_facet |
Sarmento, Aquiles Sales Craveiro |
author_role |
author |
dc.contributor.referees1.none.fl_str_mv |
Lima, Josivan Gomes de |
dc.contributor.referees2.none.fl_str_mv |
Ferreira, Leonardo Capistrano |
dc.contributor.author.fl_str_mv |
Sarmento, Aquiles Sales Craveiro |
dc.contributor.advisor-co1.fl_str_mv |
Agnez-Lima, Lucymara Fassarella |
contributor_str_mv |
Agnez-Lima, Lucymara Fassarella |
dc.subject.pr_BR.fl_str_mv |
Genes - PARP1 PARP1 Genes - APEX1 APEX1 Genes - OGG1 OGG1 |
topic |
Genes - PARP1 PARP1 Genes - APEX1 APEX1 Genes - OGG1 OGG1 |
description |
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare recessive autosomal disease characterized by nearly complete absence of adipose tissue, resulting in disturbs on carbohydrates and lipids metabolism, insulin resistance and variable cognitive impairments. It was described that northeastern Brazil has the higher BSCL prevalence in the country. Recently, some studies suggested a role of reactive oxygen species (ROS) on BSCL physiopathology. Moreover, mitochondrial dysfunction leading to oxidized DNA damage has been associated to the mutations found in BSCL patients. Since Base Excision DNA Repair (BER) pathway is involved in the removal of oxidized DNA lesions, the purpose of this study was to evaluate the mRNA expression profile of the mainly BER enzymes (APE-1, OGG1 and PARP-1) in BSCL peripheral blood cells and analyze the rate of oxidative damaged purines in those genomes. The results showed an increase of 305% and 335% on APEX1 and OGG1 mRNA expression mean, respectively, while an increase of 65% was observed on PARP1 mRNA expression mean in peripheral blood cells of BSCL people when compared with controls. We also observed almost equivalent averages between the rates of damage purines in the genome compared with controls. We supposed that the oxidative lesion rate between these groups is almost the same. The necessity of an enhanced transcription to supply a DNA repair demand on BSCL people could explain the equivalence between DNA oxidative damage between the groups. However, APE-1 and OGG-1 could have been recruited not only to repair, but also to another pathways in that peripheral blood cells. Besides, PARP-1 downregulation is an expected phenomenon in adipose tissue disturbance, because of relation between that enzyme functions and adipocyte differentiation. |
publishDate |
2016 |
dc.date.issued.fl_str_mv |
2016 |
dc.date.accessioned.fl_str_mv |
2017-05-03T14:45:14Z 2021-10-06T11:18:21Z |
dc.date.available.fl_str_mv |
2017-05-03T14:45:14Z 2021-10-06T11:18:21Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/bachelorThesis |
format |
bachelorThesis |
status_str |
publishedVersion |
dc.identifier.pr_BR.fl_str_mv |
2012911565 |
dc.identifier.citation.fl_str_mv |
SARMENTO, Aquiles Sales Craveiro. Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil. 2016. 70 f. TCC (Graduação) - Curso de Biomedicina, Universidade Federal do Rio Grande do Norte, Natal, 2016. |
dc.identifier.uri.fl_str_mv |
https://repositorio.ufrn.br/handle/123456789/43265 |
identifier_str_mv |
2012911565 SARMENTO, Aquiles Sales Craveiro. Perfil de expressão dos genes APEX1, OGG1 e PARP1 em células do sangue periférico de pessoas com a Síndrome de Berardinelli-Seip do Nordeste do Brasil. 2016. 70 f. TCC (Graduação) - Curso de Biomedicina, Universidade Federal do Rio Grande do Norte, Natal, 2016. |
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https://repositorio.ufrn.br/handle/123456789/43265 |
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por |
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Universidade Federal do Rio Grande do Norte |
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UFRN |
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Brasil |
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Biomedicina |
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Universidade Federal do Rio Grande do Norte |
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UFRN |
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Repositório Institucional da UFRN |
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