Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach

Detalhes bibliográficos
Autor(a) principal: Silva,Gerda Cristal Villalba
Data de Publicação: 2022
Outros Autores: Grefenhagen,Agnis Iohana, Borges,Pamella, Matte,Ursula
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Journal of Inborn Errors of Metabolism and Screening
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100302
Resumo: Abstract Mucopolysaccharidoses (MPS) are lysosomal diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Sensorineural hearing impairment is a common feature in MPS patients, but there is no consensus on its etiology. For this reason, we aimed to identify genes and pathways related to hearing loss and to correlate them with gene expression data in MPS. We used HPO and Disgenet to identify candidate genes. We constructed the network with string and Cytoscape, and hub genes were identified in Cytohubba. Expression data were obtained from the MPSBase website. We found the NDUFA gene family as the major hub genes and 114 enriched pathways related to hearing loss. These genes and biological pathways may serve as potential candidates for clinical studies to better understand hearing impairment mechanisms in lysosomal storage diseases like mucopolysaccharidosis.
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spelling Hearing Impairment in Mucopolysaccharidosis: A Systems Biology ApproachEar developmenthearing impairmentnetwork analysislysosomal storage diseasesAbstract Mucopolysaccharidoses (MPS) are lysosomal diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Sensorineural hearing impairment is a common feature in MPS patients, but there is no consensus on its etiology. For this reason, we aimed to identify genes and pathways related to hearing loss and to correlate them with gene expression data in MPS. We used HPO and Disgenet to identify candidate genes. We constructed the network with string and Cytoscape, and hub genes were identified in Cytohubba. Expression data were obtained from the MPSBase website. We found the NDUFA gene family as the major hub genes and 114 enriched pathways related to hearing loss. These genes and biological pathways may serve as potential candidates for clinical studies to better understand hearing impairment mechanisms in lysosomal storage diseases like mucopolysaccharidosis.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2022-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100302Journal of Inborn Errors of Metabolism and Screening v.10 2022reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1590/2326-4594-jiems-2021-0035info:eu-repo/semantics/openAccessSilva,Gerda Cristal VillalbaGrefenhagen,Agnis IohanaBorges,PamellaMatte,Ursulaeng2022-05-10T00:00:00Zoai:scielo:S2326-45942022000100302Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2022-05-10T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false
dc.title.none.fl_str_mv Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
title Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
spellingShingle Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
Silva,Gerda Cristal Villalba
Ear development
hearing impairment
network analysis
lysosomal storage diseases
title_short Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
title_full Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
title_fullStr Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
title_full_unstemmed Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
title_sort Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach
author Silva,Gerda Cristal Villalba
author_facet Silva,Gerda Cristal Villalba
Grefenhagen,Agnis Iohana
Borges,Pamella
Matte,Ursula
author_role author
author2 Grefenhagen,Agnis Iohana
Borges,Pamella
Matte,Ursula
author2_role author
author
author
dc.contributor.author.fl_str_mv Silva,Gerda Cristal Villalba
Grefenhagen,Agnis Iohana
Borges,Pamella
Matte,Ursula
dc.subject.por.fl_str_mv Ear development
hearing impairment
network analysis
lysosomal storage diseases
topic Ear development
hearing impairment
network analysis
lysosomal storage diseases
description Abstract Mucopolysaccharidoses (MPS) are lysosomal diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Sensorineural hearing impairment is a common feature in MPS patients, but there is no consensus on its etiology. For this reason, we aimed to identify genes and pathways related to hearing loss and to correlate them with gene expression data in MPS. We used HPO and Disgenet to identify candidate genes. We constructed the network with string and Cytoscape, and hub genes were identified in Cytohubba. Expression data were obtained from the MPSBase website. We found the NDUFA gene family as the major hub genes and 114 enriched pathways related to hearing loss. These genes and biological pathways may serve as potential candidates for clinical studies to better understand hearing impairment mechanisms in lysosomal storage diseases like mucopolysaccharidosis.
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=S2326-45942022000100302
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100302
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/2326-4594-jiems-2021-0035
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 Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
dc.source.none.fl_str_mv Journal of Inborn Errors of Metabolism and Screening v.10 2022
reponame:Journal of Inborn Errors of Metabolism and Screening
instname:Instituto Genética para Todos (IGPT)
instacron:IGPT
instname_str Instituto Genética para Todos (IGPT)
instacron_str IGPT
institution IGPT
reponame_str Journal of Inborn Errors of Metabolism and Screening
collection Journal of Inborn Errors of Metabolism and Screening
repository.name.fl_str_mv Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)
repository.mail.fl_str_mv jiems@jiems-journal.org||rgiugliani@hcpa.edu.br
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