COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1

Detalhes bibliográficos
Autor(a) principal: Danielle de Souza Costa
Data de Publicação: 2016
Outros Autores: Jonas j. de Paula, Antônio Marcos Alvim Soares Júnior, Patrícia a. Pereira, Leandro f. Malloy-diniz, Luiz o. c. Rodrigues, Marco a. Romano-silva, Débora m. de Miranda
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFMG
Texto Completo: http://hdl.handle.net/1843/57100
Resumo: Neurofibromatosis type I (NF1) is a neurogenetic disease marked by multiple cognitive and learning problems. Genetic variants may account for phenotypic variance in NF1. Here, we investigated the association between the catechol-O-methyltransferase (COMT) Val158Met polymorphism and working memory and arithmetic performance in 50 NF1 individuals. A significant association of the COMT polymorphism was observed only with verbal working memory, as measured by the backward digit-span task with an advantageous performance for Met/Met carriers. To study how genetic modifiers influence NF1 cognitive performance might be of importance to decrease the unpredictability of the cognitive profile among NF1 patients.
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spelling 2023-07-27T20:44:47Z2023-07-27T20:44:47Z2016-07-05103341710.3389/fnhum.2016.0033416625161http://hdl.handle.net/1843/571000000-0002-9649-867XNeurofibromatosis type I (NF1) is a neurogenetic disease marked by multiple cognitive and learning problems. Genetic variants may account for phenotypic variance in NF1. Here, we investigated the association between the catechol-O-methyltransferase (COMT) Val158Met polymorphism and working memory and arithmetic performance in 50 NF1 individuals. A significant association of the COMT polymorphism was observed only with verbal working memory, as measured by the backward digit-span task with an advantageous performance for Met/Met carriers. To study how genetic modifiers influence NF1 cognitive performance might be of importance to decrease the unpredictability of the cognitive profile among NF1 patients.engUniversidade Federal de Minas GeraisUFMGBrasilFAF - DEPARTAMENTO DE PSICOLOGIAMED - DEPARTAMENTO DE PEDIATRIAMED - DEPARTAMENTO DE SAÚDE MENTALFrontiers in Human NeuroscienceNeurofibromatose 1Memória de Curto PrazoCálculos da Dosagem de MedicamentoNeuropsicologiaFunção ExecutivaNeurofibromatosis type IWorking memoryArithmeticGenetic modifiersNeuropsychologyExecutive functionsCOMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://www.frontiersin.org/articles/10.3389/fnhum.2016.00334/fullDanielle de Souza CostaJonas j. de PaulaAntônio Marcos Alvim Soares JúniorPatrícia a. PereiraLeandro f. Malloy-dinizLuiz o. c. RodriguesMarco a. Romano-silvaDébora m. de Mirandaapplication/pdfinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFMGinstname:Universidade Federal de Minas Gerais (UFMG)instacron:UFMGLICENSELicense.txtLicense.txttext/plain; charset=utf-82042https://repositorio.ufmg.br/bitstream/1843/57100/1/License.txtfa505098d172de0bc8864fc1287ffe22MD51ORIGINALCOMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1 pdfa.pdfCOMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1 pdfa.pdfapplication/pdf238294https://repositorio.ufmg.br/bitstream/1843/57100/2/COMT%20Val158Met%20Polymorphism%20Is%20Associated%20with%20Verbal%20Working%20Memory%20in%20Neurofibromatosis%20Type%201%20pdfa.pdfc75d7c9ab8c8b295a00a00cbb8dfb6a1MD521843/571002023-07-27 18:11:12.611oai:repositorio.ufmg.br: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Repositório de PublicaçõesPUBhttps://repositorio.ufmg.br/oaiopendoar:2023-07-27T21:11:12Repositório Institucional da UFMG - Universidade Federal de Minas Gerais (UFMG)false
dc.title.pt_BR.fl_str_mv COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
spellingShingle COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
Danielle de Souza Costa
Neurofibromatosis type I
Working memory
Arithmetic
Genetic modifiers
Neuropsychology
Executive functions
Neurofibromatose 1
Memória de Curto Prazo
Cálculos da Dosagem de Medicamento
Neuropsicologia
Função Executiva
title_short COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_full COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_fullStr COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_full_unstemmed COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_sort COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
author Danielle de Souza Costa
author_facet Danielle de Souza Costa
Jonas j. de Paula
Antônio Marcos Alvim Soares Júnior
Patrícia a. Pereira
Leandro f. Malloy-diniz
Luiz o. c. Rodrigues
Marco a. Romano-silva
Débora m. de Miranda
author_role author
author2 Jonas j. de Paula
Antônio Marcos Alvim Soares Júnior
Patrícia a. Pereira
Leandro f. Malloy-diniz
Luiz o. c. Rodrigues
Marco a. Romano-silva
Débora m. de Miranda
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Danielle de Souza Costa
Jonas j. de Paula
Antônio Marcos Alvim Soares Júnior
Patrícia a. Pereira
Leandro f. Malloy-diniz
Luiz o. c. Rodrigues
Marco a. Romano-silva
Débora m. de Miranda
dc.subject.por.fl_str_mv Neurofibromatosis type I
Working memory
Arithmetic
Genetic modifiers
Neuropsychology
Executive functions
topic Neurofibromatosis type I
Working memory
Arithmetic
Genetic modifiers
Neuropsychology
Executive functions
Neurofibromatose 1
Memória de Curto Prazo
Cálculos da Dosagem de Medicamento
Neuropsicologia
Função Executiva
dc.subject.other.pt_BR.fl_str_mv Neurofibromatose 1
Memória de Curto Prazo
Cálculos da Dosagem de Medicamento
Neuropsicologia
Função Executiva
description Neurofibromatosis type I (NF1) is a neurogenetic disease marked by multiple cognitive and learning problems. Genetic variants may account for phenotypic variance in NF1. Here, we investigated the association between the catechol-O-methyltransferase (COMT) Val158Met polymorphism and working memory and arithmetic performance in 50 NF1 individuals. A significant association of the COMT polymorphism was observed only with verbal working memory, as measured by the backward digit-span task with an advantageous performance for Met/Met carriers. To study how genetic modifiers influence NF1 cognitive performance might be of importance to decrease the unpredictability of the cognitive profile among NF1 patients.
publishDate 2016
dc.date.issued.fl_str_mv 2016-07-05
dc.date.accessioned.fl_str_mv 2023-07-27T20:44:47Z
dc.date.available.fl_str_mv 2023-07-27T20:44:47Z
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.uri.fl_str_mv http://hdl.handle.net/1843/57100
dc.identifier.doi.pt_BR.fl_str_mv 10.3389/fnhum.2016.00334
dc.identifier.issn.pt_BR.fl_str_mv 16625161
dc.identifier.orcid.pt_BR.fl_str_mv 0000-0002-9649-867X
identifier_str_mv 10.3389/fnhum.2016.00334
16625161
0000-0002-9649-867X
url http://hdl.handle.net/1843/57100
dc.language.iso.fl_str_mv eng
language eng
dc.relation.ispartof.none.fl_str_mv Frontiers in Human Neuroscience
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Universidade Federal de Minas Gerais
dc.publisher.initials.fl_str_mv UFMG
dc.publisher.country.fl_str_mv Brasil
dc.publisher.department.fl_str_mv FAF - DEPARTAMENTO DE PSICOLOGIA
MED - DEPARTAMENTO DE PEDIATRIA
MED - DEPARTAMENTO DE SAÚDE MENTAL
publisher.none.fl_str_mv Universidade Federal de Minas Gerais
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFMG
instname:Universidade Federal de Minas Gerais (UFMG)
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instname_str Universidade Federal de Minas Gerais (UFMG)
instacron_str UFMG
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collection Repositório Institucional da UFMG
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