COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1

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) Val(158)Met polymorphism and working memory...

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Autores principales: Costa, Danielle de Souza, de Paula, Jonas J., Alvim-Soares, Antonio M., Pereira, Patrícia A., Malloy-Diniz, Leandro F., Rodrigues, Luiz O. C., Romano-Silva, Marco A., de Miranda, Débora M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932101/
https://www.ncbi.nlm.nih.gov/pubmed/27458360
http://dx.doi.org/10.3389/fnhum.2016.00334
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author Costa, Danielle de Souza
de Paula, Jonas J.
Alvim-Soares, Antonio M.
Pereira, Patrícia A.
Malloy-Diniz, Leandro F.
Rodrigues, Luiz O. C.
Romano-Silva, Marco A.
de Miranda, Débora M.
author_facet Costa, Danielle de Souza
de Paula, Jonas J.
Alvim-Soares, Antonio M.
Pereira, Patrícia A.
Malloy-Diniz, Leandro F.
Rodrigues, Luiz O. C.
Romano-Silva, Marco A.
de Miranda, Débora M.
author_sort Costa, Danielle de Souza
collection PubMed
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) Val(158)Met 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 pubmed-49321012016-07-25 COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1 Costa, Danielle de Souza de Paula, Jonas J. Alvim-Soares, Antonio M. Pereira, Patrícia A. Malloy-Diniz, Leandro F. Rodrigues, Luiz O. C. Romano-Silva, Marco A. de Miranda, Débora M. Front Hum Neurosci Neuroscience 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) Val(158)Met 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. Frontiers Media S.A. 2016-07-05 /pmc/articles/PMC4932101/ /pubmed/27458360 http://dx.doi.org/10.3389/fnhum.2016.00334 Text en Copyright © 2016 Costa, de Paula, Alvim-Soares, Pereira, Malloy-Diniz, Rodrigues, Romano-Silva and Miranda. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Costa, Danielle de Souza
de Paula, Jonas J.
Alvim-Soares, Antonio M.
Pereira, Patrícia A.
Malloy-Diniz, Leandro F.
Rodrigues, Luiz O. C.
Romano-Silva, Marco A.
de Miranda, Débora M.
COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_full COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_fullStr COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_full_unstemmed COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_short COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1
title_sort comt val(158)met polymorphism is associated with verbal working memory in neurofibromatosis type 1
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932101/
https://www.ncbi.nlm.nih.gov/pubmed/27458360
http://dx.doi.org/10.3389/fnhum.2016.00334
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