Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome

Yukari Takarae, Linda Schmidt, Flora Tassone, Tony J. Simon

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Dopamine plays a critical role in regulating neural activity in prefrontal cortex (PFC) and modulates cognition via a hypothesized inverse U function. We investigated PFC function in children with chromosome 22q11.2 deletion syndrome (22q11.2DS) in which one copy of catechol-O-methyltransferase (COMT) is deleted, thereby shifting them toward the lower end of dopamine turnover on the nonlinear function. A common polymorphism with valine to methionine substitution alters COMT activity that results in higher enzyme activity in the valine variant. Twenty-seven children with 22q11.2DS between 7 and 14 years old, and 21 age-matched typically developing children, performed a modified version of the Attention Network Test. Children with a single valine allele showed a reduction in response times when trials with incongruent flankers were repeated, whereas those who were hemizygous for the methionine allele did not show the same context-based response facilitation. Our results support that a single gene, COMT, could modulate PFC-dependent cognition.

Original languageEnglish (US)
Pages (from-to)83-90
Number of pages8
JournalCognitive, Affective and Behavioral Neuroscience
Volume9
Issue number1
DOIs
StatePublished - Mar 1 2009

ASJC Scopus subject areas

  • Cognitive Neuroscience
  • Behavioral Neuroscience

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