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Front Hum Neurosci. 2016 Jul 5;10:334. doi: 10.3389/fnhum.2016.00334. eCollection 2016.

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

Author information

1
Postgraduate Program in Molecular Medicine, School of Medicine, Federal University of Minas Gerais Belo Horizonte, Brazil.
2
Postgraduate Program in Molecular Medicine, School of Medicine, Federal University of Minas GeraisBelo Horizonte, Brazil; Department of Psychology, Faculty of Medical Sciences of Minas GeraisBelo Horizonte, Brazil.
3
Department of Psychiatry, School of Medicine, Federal University of Minas GeraisBelo Horizonte, Brazil; National Institute of Science and Technology of Molecular MedicineBelo Horizonte, Brazil.
4
Neurofibromatosis Outpatient Reference Center, School of Medicine, Federal University of Minas Gerais Belo Horizonte, Brazil.
5
National Institute of Science and Technology of Molecular MedicineBelo Horizonte, Brazil; Department of Pediatrics, School of Medicine, Federal University of Minas GeraisBelo Horizonte, Brazil.

Abstract

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.

KEYWORDS:

COMT Val158Met polymorphism; arithmetic; executive functions; genetic modifiers; neurofibromatosis type I; neuropsychology; working memory

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