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

Danielle de Souza Costa; Jonas J de Paula; Antonio M Alvim-Soares Jr; Patrícia A Pereira; Leandro F Malloy-Diniz; Luiz O C Rodrigues; Marco A Romano-Silva; Débora M de Miranda

doi:10.3389/fnhum.2016.00334

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

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

Authors

Danielle de Souza Costa¹, Jonas J de Paula², Antonio M Alvim-Soares Jr¹, Patrícia A Pereira¹, Leandro F Malloy-Diniz³, Luiz O C Rodrigues⁴, Marco A Romano-Silva³, Débora M de Miranda⁵

Affiliations

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.