DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000400112 |
Resumo: | Abstract Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways, and genome stability. Subjects with lipodystrophy exhibit an impairment in the homeostasis of subcutaneous white adipose tissue (sWAT), resulting in low leptin and adiponectin levels, insulin resistance (IR), diabetes, dyslipidemia, ectopic fat deposition, inflammation, mitochondrial and endoplasmic reticulum commitments, among others. However, how pathogenic variants in adipogenesis-related genes modulate DNA repair in some classical congenital lipodystrophies has not been elucidated. In the same way, no data is clarifying how pathogenic variants in DNA repair genes result in sWAT loss in different types of progeroid lipodystrophies. This review will concentrate on the main molecular findings to understand the link between DNA damage/repair and adipogenesis in human and animal models of congenital lipodystrophies. We will focus on classical and progeroid congenital lipodystrophies directly or indirectly related to DNA repair pathways, highlighting the role of DNA repair-related proteins in maintaining sWAT homeostasis. |
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DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophiesDNA repairadipogenesisgenetic lipodystrophiesmetabolismAbstract Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways, and genome stability. Subjects with lipodystrophy exhibit an impairment in the homeostasis of subcutaneous white adipose tissue (sWAT), resulting in low leptin and adiponectin levels, insulin resistance (IR), diabetes, dyslipidemia, ectopic fat deposition, inflammation, mitochondrial and endoplasmic reticulum commitments, among others. However, how pathogenic variants in adipogenesis-related genes modulate DNA repair in some classical congenital lipodystrophies has not been elucidated. In the same way, no data is clarifying how pathogenic variants in DNA repair genes result in sWAT loss in different types of progeroid lipodystrophies. This review will concentrate on the main molecular findings to understand the link between DNA damage/repair and adipogenesis in human and animal models of congenital lipodystrophies. We will focus on classical and progeroid congenital lipodystrophies directly or indirectly related to DNA repair pathways, highlighting the role of DNA repair-related proteins in maintaining sWAT homeostasis.Sociedade Brasileira de Genética2022-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000400112Genetics and Molecular Biology v.45 n.3 suppl.1 2022reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2022-0086info:eu-repo/semantics/openAccessCampos,Julliane Tamara Araújo de MeloOliveira,Matheus Sena deSoares,Luisa PessoaMedeiros,Katarina Azevedo deCampos,Leonardo René dos SantosLima,Josivan Gomeseng2022-11-04T00:00:00Zoai:scielo:S1415-47572022000400112Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2022-11-04T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies |
title |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies |
spellingShingle |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies Campos,Julliane Tamara Araújo de Melo DNA repair adipogenesis genetic lipodystrophies metabolism |
title_short |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies |
title_full |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies |
title_fullStr |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies |
title_full_unstemmed |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies |
title_sort |
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies |
author |
Campos,Julliane Tamara Araújo de Melo |
author_facet |
Campos,Julliane Tamara Araújo de Melo Oliveira,Matheus Sena de Soares,Luisa Pessoa Medeiros,Katarina Azevedo de Campos,Leonardo René dos Santos Lima,Josivan Gomes |
author_role |
author |
author2 |
Oliveira,Matheus Sena de Soares,Luisa Pessoa Medeiros,Katarina Azevedo de Campos,Leonardo René dos Santos Lima,Josivan Gomes |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Campos,Julliane Tamara Araújo de Melo Oliveira,Matheus Sena de Soares,Luisa Pessoa Medeiros,Katarina Azevedo de Campos,Leonardo René dos Santos Lima,Josivan Gomes |
dc.subject.por.fl_str_mv |
DNA repair adipogenesis genetic lipodystrophies metabolism |
topic |
DNA repair adipogenesis genetic lipodystrophies metabolism |
description |
Abstract Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways, and genome stability. Subjects with lipodystrophy exhibit an impairment in the homeostasis of subcutaneous white adipose tissue (sWAT), resulting in low leptin and adiponectin levels, insulin resistance (IR), diabetes, dyslipidemia, ectopic fat deposition, inflammation, mitochondrial and endoplasmic reticulum commitments, among others. However, how pathogenic variants in adipogenesis-related genes modulate DNA repair in some classical congenital lipodystrophies has not been elucidated. In the same way, no data is clarifying how pathogenic variants in DNA repair genes result in sWAT loss in different types of progeroid lipodystrophies. This review will concentrate on the main molecular findings to understand the link between DNA damage/repair and adipogenesis in human and animal models of congenital lipodystrophies. We will focus on classical and progeroid congenital lipodystrophies directly or indirectly related to DNA repair pathways, highlighting the role of DNA repair-related proteins in maintaining sWAT homeostasis. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000400112 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000400112 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1678-4685-gmb-2022-0086 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.45 n.3 suppl.1 2022 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122390666543104 |