Bodenmann Sereina, Rusterholz Thomas, Dürr Roland, Stoll Claudia, Bachmann Valérie, Geissler Eva, Jaggi-Schwarz Karin, Landolt Hans-Peter
Institute of Pharmacology and Toxicology, University of Zürich, 8057 Zürich, Switzerland.
J Neurosci. 2009 Sep 2;29(35):10855-62. doi: 10.1523/JNEUROSCI.1427-09.2009.
Individual patterns of the electroencephalogram (EEG) in wakefulness and sleep are among the most heritable traits in humans, yet distinct genetic and neurochemical mechanisms underlying EEG phenotypes are largely unknown. A functional polymorphism in the gene encoding catechol-O-methyltransferase (COMT), an enzyme playing an important role in cortical dopamine metabolism, causes a common substitution of methionine (Met) for valine (Val) at codon 158 of COMT protein. Val allele homozygotes exhibit higher COMT activity and lower dopaminergic signaling in prefrontal cortex than Met/Met homozygotes. Evidence suggests that this polymorphism affects executive functions in healthy individuals. We hypothesized that it also modulates functional aspects of EEG in wakefulness and sleep. EEG recordings were conducted twice on separate occasions in 10 Val/Val and 12 Met/Met allele carriers (all men) in wakefulness, and in baseline and recovery sleep before and after 40 h prolonged waking. During sleep deprivation, subjects received placebo and modafinil in randomized, cross-over manner. We show that the Val158Met polymorphism predicts stable and frequency-specific, interindividual variation in brain alpha oscillations. Alpha peak frequency in wakefulness was 1.4 Hz slower in Val/Val genotype than in Met/Met genotype. Moreover, Val/Val allele carriers exhibited less 11-13 Hz activity than Met/Met homozygotes in wakefulness, rapid-eye-movement (REM) sleep, and non-REM sleep. This difference was resistant against the effects of sleep deprivation and modafinil. The data demonstrate that mechanisms involving COMT contribute to interindividual differences in brain alpha oscillations, which are functionally related to executive performance such as counting tendency on a random number generation task in young adults.
脑电图(EEG)在清醒和睡眠状态下的个体模式是人类中遗传性最强的特征之一,然而EEG表型背后独特的遗传和神经化学机制在很大程度上仍不为人所知。编码儿茶酚-O-甲基转移酶(COMT)的基因存在一种功能多态性,该酶在皮质多巴胺代谢中起重要作用,它会导致COMT蛋白第158位密码子处的甲硫氨酸(Met)被缬氨酸(Val)普遍替代。与Met/Met纯合子相比,Val等位基因纯合子在前额叶皮质表现出更高的COMT活性和更低的多巴胺能信号传导。有证据表明这种多态性会影响健康个体的执行功能。我们推测它也会调节清醒和睡眠状态下EEG的功能方面。对10名Val/Val和12名Met/Met等位基因携带者(均为男性)在清醒状态下以及在40小时长时间清醒前后的基础睡眠和恢复睡眠期间分别进行了两次EEG记录。在睡眠剥夺期间,受试者以随机交叉的方式接受安慰剂和莫达非尼。我们发现Val158Met多态性可预测大脑α振荡中稳定且频率特异性的个体间差异。清醒状态下,Val/Val基因型的α峰值频率比Met/Met基因型慢1.4赫兹。此外,Val/Val等位基因携带者在清醒、快速眼动(REM)睡眠和非REM睡眠中的11 - 13赫兹活动比Met/Met纯合子少。这种差异不受睡眠剥夺和莫达非尼的影响。数据表明,涉及COMT的机制导致了大脑α振荡的个体间差异,这在功能上与执行表现相关,例如年轻人在随机数字生成任务中的计数倾向。