Genetic Mutations Related to Neonatal Diabetes
Autor(a) principal: | |
---|---|
Data de Publicação: | 2009 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Saúde e Pesquisa (Online) |
Texto Completo: | https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/1013 |
Resumo: | The insulin has a central role in the glucose homeostasis regulation. Therefore, the identification of genes associated to the risk of diabetes has contributed to maintaining this equilibrium. Abnormalities on glucose concentrations lead to Diabetes Mellitus (DM) types I, II and neonatal. The neonatal diabetes presents the transitory form (TND) and the permanent form (PND), being the last more frequent. The aim of this research was to present a review of the physiological aspects of diabetes mellitus, mainly focusing the neonatal diabetes as well as the kinds of mutations that lead to PND. It was possible to verify that eight marker genes were already identified for PND predisposition. These mutations lead to specific genetic defects, like: chromosome 6 abnormalities or mutations in the potassium channel, sensible to ATP (K+ATP), or in the KCNJ11 and ABCC8 genes, which codify the first and second subunits of the potassium channel ATP-dependent of the -cell, respectively. Alterations in the insulin gene (INS), other logical candidate to the susceptibility to diabetes, located in the short arm of chromosome 11, can also be the cause of neonatal diabetes. The study of these mutations and the knowledge of the physiological and biochemical alterations involved in neonatal diabetes are particularly important for the introduction of new diagnostic and therapeutic methods. |
id |
CESUMAR-1_b0fb648113706f025622d827809004c1 |
---|---|
oai_identifier_str |
oai:ojs.pkp.sfu.ca:article/1013 |
network_acronym_str |
CESUMAR-1 |
network_name_str |
Saúde e Pesquisa (Online) |
repository_id_str |
|
spelling |
Genetic Mutations Related to Neonatal DiabetesMutações Genéticas Relacionadas com o Diabetes Melito NeonatalInsulinaDiabetes NeonatalMutações Associadas ao DNPInsulinNeonatal DiabetesPND Associated Mutations.The insulin has a central role in the glucose homeostasis regulation. Therefore, the identification of genes associated to the risk of diabetes has contributed to maintaining this equilibrium. Abnormalities on glucose concentrations lead to Diabetes Mellitus (DM) types I, II and neonatal. The neonatal diabetes presents the transitory form (TND) and the permanent form (PND), being the last more frequent. The aim of this research was to present a review of the physiological aspects of diabetes mellitus, mainly focusing the neonatal diabetes as well as the kinds of mutations that lead to PND. It was possible to verify that eight marker genes were already identified for PND predisposition. These mutations lead to specific genetic defects, like: chromosome 6 abnormalities or mutations in the potassium channel, sensible to ATP (K+ATP), or in the KCNJ11 and ABCC8 genes, which codify the first and second subunits of the potassium channel ATP-dependent of the -cell, respectively. Alterations in the insulin gene (INS), other logical candidate to the susceptibility to diabetes, located in the short arm of chromosome 11, can also be the cause of neonatal diabetes. The study of these mutations and the knowledge of the physiological and biochemical alterations involved in neonatal diabetes are particularly important for the introduction of new diagnostic and therapeutic methods.A insulina exerce um papel central na regulação da homeostase da glicose. Assim, a identificação de genes associados com o risco de diabetes tem contribuído para manter esse equilíbrio. As anormalidades das concentrações de glicose ocasionam o Diabetes Mellitus (DM), podendo ser dos tipos I, II e neonatal. O diabetes neonatal apresenta as formas transitória (DNT) e permanente (DNP), sendo a última mais frequente. O objetivo deste trabalho foi apresentar uma revisão dos aspectos fisiológicos do diabetes melito, focando principalmente o diabetes neonatal, bem como os tipos de mutações que levam ao DNP. Foi possível verificar que já existem identificados oito genes marcadores para predisposição ao DNP. As mutações envolvidas levam a defeitos genéticos específicos, como: anormalidades do cromossomo 6 ou mutações no canal de potássio, sensível ao ATP (K+ATP), ou nos genes KCNJ11 e ABCC8, que codificam a primeira e a segunda subunidade do canal de potássio ATP dependente da membrana plasmática da célula beta, respectivamente. Alterações no gene da insulina (INS), outro candidato lógico para a susceptibilidade ao diabetes, localizado no braço curto do cromossomo 11, podem também levar ao diabetes neonatal. O estudo destas mutações bem como o entendimento das alterações fisiológicas e bioquímicas envolvidas com o diabetes neonatal são de extrema importância para a introdução de novos métodos diagnósticos e terapêuticos.Universidade Cesumar - UniCesumar2009-08-19info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRevisão de Literaturaapplication/pdfhttps://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/1013Saúde e Pesquisa; Vol 2 No 2 (2009): maio/ago.; 241-248Saúde e Pesquisa; v. 2 n. 2 (2009): maio/ago.; 241-2482176-9206reponame:Saúde e Pesquisa (Online)instname:Cesumar Diretoria de Pesquisainstacron:CESUMARporhttps://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/1013/788Moreira, Bruna Manueli TelesRosado, Fábio RogérioFiorini, AdrianaMendes, Fagner Cordeiro Vilarinfo:eu-repo/semantics/openAccess2022-05-23T17:46:16Zoai:ojs.pkp.sfu.ca:article/1013Revistahttps://periodicos.unicesumar.edu.br/index.php/saudpesqPUBhttps://periodicos.unicesumar.edu.br/index.php/saudpesq/oainaep@cesumar.br2176-92061983-1870opendoar:2022-05-23T17:46:16Saúde e Pesquisa (Online) - Cesumar Diretoria de Pesquisafalse |
dc.title.none.fl_str_mv |
Genetic Mutations Related to Neonatal Diabetes Mutações Genéticas Relacionadas com o Diabetes Melito Neonatal |
title |
Genetic Mutations Related to Neonatal Diabetes |
spellingShingle |
Genetic Mutations Related to Neonatal Diabetes Moreira, Bruna Manueli Teles Insulina Diabetes Neonatal Mutações Associadas ao DNP Insulin Neonatal Diabetes PND Associated Mutations. |
title_short |
Genetic Mutations Related to Neonatal Diabetes |
title_full |
Genetic Mutations Related to Neonatal Diabetes |
title_fullStr |
Genetic Mutations Related to Neonatal Diabetes |
title_full_unstemmed |
Genetic Mutations Related to Neonatal Diabetes |
title_sort |
Genetic Mutations Related to Neonatal Diabetes |
author |
Moreira, Bruna Manueli Teles |
author_facet |
Moreira, Bruna Manueli Teles Rosado, Fábio Rogério Fiorini, Adriana Mendes, Fagner Cordeiro Vilar |
author_role |
author |
author2 |
Rosado, Fábio Rogério Fiorini, Adriana Mendes, Fagner Cordeiro Vilar |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Moreira, Bruna Manueli Teles Rosado, Fábio Rogério Fiorini, Adriana Mendes, Fagner Cordeiro Vilar |
dc.subject.por.fl_str_mv |
Insulina Diabetes Neonatal Mutações Associadas ao DNP Insulin Neonatal Diabetes PND Associated Mutations. |
topic |
Insulina Diabetes Neonatal Mutações Associadas ao DNP Insulin Neonatal Diabetes PND Associated Mutations. |
description |
The insulin has a central role in the glucose homeostasis regulation. Therefore, the identification of genes associated to the risk of diabetes has contributed to maintaining this equilibrium. Abnormalities on glucose concentrations lead to Diabetes Mellitus (DM) types I, II and neonatal. The neonatal diabetes presents the transitory form (TND) and the permanent form (PND), being the last more frequent. The aim of this research was to present a review of the physiological aspects of diabetes mellitus, mainly focusing the neonatal diabetes as well as the kinds of mutations that lead to PND. It was possible to verify that eight marker genes were already identified for PND predisposition. These mutations lead to specific genetic defects, like: chromosome 6 abnormalities or mutations in the potassium channel, sensible to ATP (K+ATP), or in the KCNJ11 and ABCC8 genes, which codify the first and second subunits of the potassium channel ATP-dependent of the -cell, respectively. Alterations in the insulin gene (INS), other logical candidate to the susceptibility to diabetes, located in the short arm of chromosome 11, can also be the cause of neonatal diabetes. The study of these mutations and the knowledge of the physiological and biochemical alterations involved in neonatal diabetes are particularly important for the introduction of new diagnostic and therapeutic methods. |
publishDate |
2009 |
dc.date.none.fl_str_mv |
2009-08-19 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Revisão de Literatura |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/1013 |
url |
https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/1013 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://periodicos.unicesumar.edu.br/index.php/saudpesq/article/view/1013/788 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade Cesumar - UniCesumar |
publisher.none.fl_str_mv |
Universidade Cesumar - UniCesumar |
dc.source.none.fl_str_mv |
Saúde e Pesquisa; Vol 2 No 2 (2009): maio/ago.; 241-248 Saúde e Pesquisa; v. 2 n. 2 (2009): maio/ago.; 241-248 2176-9206 reponame:Saúde e Pesquisa (Online) instname:Cesumar Diretoria de Pesquisa instacron:CESUMAR |
instname_str |
Cesumar Diretoria de Pesquisa |
instacron_str |
CESUMAR |
institution |
CESUMAR |
reponame_str |
Saúde e Pesquisa (Online) |
collection |
Saúde e Pesquisa (Online) |
repository.name.fl_str_mv |
Saúde e Pesquisa (Online) - Cesumar Diretoria de Pesquisa |
repository.mail.fl_str_mv |
naep@cesumar.br |
_version_ |
1754122531598499840 |